Null and Alternatively Expressed Alleles

Assigned up to April 2013

We list here all HLA alleles which have been shown to either not to be expressed, Null alleles, that have the suffix 'N' and those alleles which have been shown to be alternatively expressed have the suffix 'L', 'S', 'C', 'A' or 'Q'.

The suffix 'L' is used to indicate an allele which has been shown to have 'Low' cell surface expression when compared to normal levels. The 'S' suffix is used to denote an allele specifying a protein which is expressed as a soluble 'Secreted' molecule but is not present on the cell surface. A 'C' suffix to indicate an allele product which is present in the 'Cytoplasm' but not on the cell surface. An 'A' suffix to indicate 'Aberrant' expression where there is some doubt as to whether a protein is expressed. A 'Q' suffix when the expression of an allele is 'Questionable' given that the mutation seen in the allele has previousÏly been shown to effect normal expression levels.

As of October 2012 no alleles have been named which use the 'C' or 'A' suffix.

All numbering is based on alignment to the exon sequence of the standard reference allele for that locus e.g.; A*01:01:01:01 for null HLA-A alleles. A full explanation of how the mutations are described is provided after the table.

Null Alleles

Allele Mutation      Description of Mutation References
A*01:01:01:02N
Deletion
Intron 2, g478-481delGTGA, causes translation of intron 2 sequence and abnormal truncated peptide  
A*01:04N
Insertion
Exon 4, 627-628insC, in codon 186, causes frameshift and premature stop at codon 196 Laforet et al. Tissue Antigens. 1997 50:347-50
Zanone-Ramseier et al. Transplantation. 1999 67:1336-41
Poli et al. Tissue Antigens. 1999 54:300-2
A*01:11N
Point
Exon 3, 968G>T, causes alternative splice site at end of exon 3 which prevents translation into a correct and stable class I molecule expressed on the cell surface Reinders et al. Hum Immunol. 2005 66:912-20
A*01:15N
Deletion
Exon 3, 559delC, in codon 163, causes frameshift and premature stop at codon 189 Bera et al. Tissue Antigens. 2006 67:61-3
Lazaro et al. Tissue Antigens. 2009 73:364-72 2009
A*01:16N
Insertion
Exon 3, 532-533insG, in codon 154, causes frameshift and premature stop at codon 196  
A*01:18N
Point
Exon 2, 215G>C, causes R48P, which may effect the binding of beta-2 microglobulin. Henry et al. Am J. Clin. Pathol. 2004 122:185-92
A*01:22N
Deletion
Exon 4, 751delG, in codon 227 causes frameshift and premature stop at codon 189  
A*01:27N
Point
Exon 3, 553-555GAG>TAG, causes E161X, a premature stop at codon 161 Longhi et al. Human Immunol. 2008 68:913-4
A*01:31N
Point
Exon 2,250-252TGG>TAG, causes W60X, a premature stop at codon 60  
A*01:52N Point Exon 3, 469-471TGG>TAG, causes W133X, a premature stop at codon 133  
A*01:53N Point Exon 3, 547-549TAC>TAA, causes Y159X, a premature stop at codon 159  
A*01:56N Point Exon 4, 721-723TGG>TGA, causes W217X, a premature stop at codon 217  
A*01:57N Point Exon 3, 454-456GAG>TAG, causes E128X, a premature stop at codon 128  
A*01:87N Deletion Exon 4, 723delG, in codon 217, causes frameshift and premature stop at codon 272  
A*01:123N Deletion Exon 2, 610delC, in codon 180, causes frame shift and premature stop codon at codon 189  
A*02:15N
Point
Exon 4, 841-843TAC>TAA, causes Y257X, a premature stop at codon 257 Ishikawa et al. Immunogenetics. 1996 43:1-5
A*02:32N
Point
Exon 3, 493-495CAG>TAG, causes Q141X, a premature stop at codon 141 Bunce et al. Tissue Antigens. 2000 55:31-6
A*02:43N
Insertion
Exon 4, 779-780insC, in codon 236, causes frameshift and premature stop at codon 264  
A*02:53N
Point
Exon 2, 322-324TAC>TAG, causes Y84X, a premature stop at codon 84 Wu et al. Tissue Antigens. 2002 59:328-30
A*02:82N
Point
Exon 3, 562-564TGC>TGA, causes C164X, a premature stop at codon 164  
A*02:83N
Point
Exon 4, 829-831GAG>TAG, causes Q253X, a premature stop at codon 253 Horn et al. Tissue Antigens. 2005 66:335-7
A*02:88N
Point
Exon 3, 418-420GAC>TAG, causes D116X, a premature stop at codon 116  
A*02:94N
Deletion
Exon 2, 337delG, in codon 89, causes frameshift and premature stop at codon 126  
A*02:113N
Point
Exon 2, 250-252TGG>TAG, causes W60X, a premature stop at codon 60 Hammond et al. Tissue Antigens. 2008 72:176-6
A*02:125N
Deletion
Exon 2, 261delG, in codon 63, causes a frameshift and premature stop codon 67 Anholts et al. Tissue Antigens. 2009 74:424-8
A*02:222N Point Exon 3, 451-453AAA>TAA, causes K127X, a premature stop at codon 127  
A*02:223N Point Exon 3, 415-417CAG>TAG, causes Q115X, a premature stop at codon 115  
A*02:225N Point Exon 3, 439-441TAC>TAA, causes Y123X, a premature stop at codon 123  
A*02:226N Point Exon 3, 538-540TTG>TAG, causes L156X, a premature stop at codon 156  
A*02:227N Point Exon 3, 610-612CAG>TAG, causes Q180X, a premature stop at codon 180  
A*02:395N Point Exon 2, 268A>T, causes N66X, a premature stop at codon 66  
A*02:250N Deletion Exon 2, 286-287delCA, in codons 71-72, causes frameshift and premature stop at codon 195  
A*02:284N Point Exon 3, 391-393TGG>TAG, causes W107X, a premature stop at codon 107  
A*02:301N Deletion Exon 3, 426delC, in codon 118, causes frameshift and premature stop at codon 118  
A*02:305N Deletion Exon 4, 814delG, in codon 248, causes frameshift and premature stop at codon 272  
A*02:314N Point Exon 3, 408-411 TAC>TAG, causes Y113X, a premature stop at codon 113  
A*02:321N Point Exon 2, 244-246GAG>TAG, causes Q58X, premature stop at codon 58  
A*02:350N Point Exon 2, 337-339GAG>TAG causes E89X, a premature stop at codon 89  
A*02:356N Point Exon 4, 841-843TAC>TAA, causes Y257X, a premature stop at codon 257  
A*02:366N Point Exon 2, 295-297CGA>TGA, causes R75X, a premature stop at codon 75  
A*02:373N Point Exon 3, 514-516GAG>TAG, causes E148X, a premature stop at codon 148  
A*03:01:01:02N
Point
Intron 4, g1846G>A, causes incorrect splicing and premature stop codon  
A*03:03N
Deletion
Exon 3, 373-378delTGCGAC, causes deletion of codons 101-102. Codon 101 is necessary for formation of the disulphide bridge Lienert et al. Tissue Antigens. 1996 48:187-91
A*03:11N
Point
Exon 3, 424-426TAC>TAA, causes Y118X, a premature stop at codon 118  
A*03:21N
Insertion
Exon 4, 627-628insC, in codon 186, causes frameshift and premature stop at codon 196  
A*03:36N
Deletion
Exon 2, 264-290delACGGAATATGAAGGCCC  
A*03:68N
Point
Exon 2, 331-333CAG>TAG, causes Q87X, a premature stop at codon 87  
A*03:69N
Point
Exon 3, 538-540CGG>TAG, causes R156X, a premature stop at codon 156  
A*03:91N Point Exon 2, 325-327TAC>TAA, causes Y85X, a premature stop at codon 85  
A*03:129N Deletion Exon 4, 651delC, in codon 193, causes frameshift and premature stop at codon 201  
A*03:161N Point Exon 2, 127-129 GAG>TAG, causes E19X, a premature stop at codon 19  
A*03:162N Insertion Exon 3, 664-665insCATG, in codon 198, causes frame shift and premature stop at codon 199  
A*11:21N
Insertion
Exon 4, 627-628insC, in codon 186, causes frameshift and premature stop at codon 196  
A*11:69N Point Exon 4, 721-723TGG>TGA, causes W217X, a premature stop at codon 217  
A*11:78N Deletion Exon 2, 285-286delAC, causes frameshift and premature stop codon at 73  
A*11:99N Deletion Exon 2, 153delC, in codon 27, causes frameshift and premature stop at codon 27  
A*11:109N Point Exon 3, 511-514TGG>TGA, causesW147X, a premature stop at codon 147  
A*11:115N Point Exon 2, 151-153TAC>TAA , causes Y27X, a premature stop at codon 27  
A*11:127N Point Exon 3, 583-585TAC>TAA , causes Y171X, a premature stop at codon 171  
A*11:137N Point Exon 3, 426C>G, causes Y118X, a premature stop at codon 118  
A*23:07N
Insertion
Exon 4, 627-628insC, in codon 186, causes frameshift and premature stop at codon 196  
A*23:08N
Point
Exon 3, 562-564TGC>TGA, causes c164X, a premature stop at codon 164  
A*23:38N Deletion Exon 2, 303delC in codon 77, causes frameshift and premature stop at codon 97  
A*23:11N
Insertion
Exon 2, 150-151insAGCCCCGCTTCATCGCCGTGGGC, causes frameshift and premature stop codon 60  
A*24:09N
Point
Exon 4, 742-744CAG>TAG, causes Q224X, a premature stop at codon 224 Magor et al. J. Immunol. 1997 158:5242-50
A*24:11N
Insertion
Exon 4, 627-628insC, in codon 186, causes frameshift and premature stop at codon 196 Magor et al. J. Immunol. 1997 158:5242-50
A*24:36N
Deletion
Exon 2, 252-253delGG, in codon 60, causes frameshift and premature stop at codon 60 Li et al. Tissue Antigens. 2002 60:184-5
A*24:40N
Deletion
Exon 4, 626-627delCC, in codon 185, causes frameshift and premature stop codon 195  
A*24:45N
Deletion
Exon 2, 101-102delCA, in codon 10, causes frameshift and premature stop codon 73  
A*24:48N
Point
Exon 3, 532-534GAG>TAG, causes E154X, a premature stop at codon 154  
A*24:60N
Point
Exon 2, 295-297CGA>TGA, causes R75X, a premature stop at codon 75  
A*24:83N
Point
Exon 4, 697-699TAC>TAA, causes Y209X, a premature stop at codon 209  
A*24:84N
Point
Exon 3, 424-426TAC>TAA, causes Y118X, a premature stop at codon 118  
A*24:86N
Insertion
Exon 3, 614-615insGAAGGAGACGCTGCAGC, in codon 181, causes frameshift and premature stop codon 195 Yan et al. Tissue Antigens. 2009 73:63-5
A*24:90N
Point
Exon 3, 418-420GAC>TAG, causes Y116X, a premature stop at codon 116  
A*24:132N Point Exon 3, 373-375TGC>TGA, causes C101X, a premature stop at codon 101  
A*24:155N Deletion Exon 4, 740delA, causes frameshift and premature stop codon at 272  
A*24:158N Deletion Exon 3, 453-454delCG, causes frameshift and premature stop at codon 195  
A*24:163N Deletion Exon 4/5, 895-897GAG>TAG, causesW275X, a premature stop at codon 275  
A*24:183N Point Exon 4, 841-843TAC>TAA, causes Y257X, a premature stop at codon 257  
A*24:185N Point Exon 2, 232-234CAG>TAG, causes Q54X, a premature stop at codon 54  
A*24:222N Deletion Exon 3, 355-357delC, in codon 95, causes frame shift and premature stop at codon 97  
A*24:232N Insertion  Exon 2, 113-114insTCCCG, in codon 14, causes a frame shift and a premature stop codon at codon 60  
A*25:12N Point Exon 3, 547-549TAC>TAA, causes Y159X, a premature stop at codon 159  
A*26:11N
Insertion
Exon 3, 516-517insAC, in codon 149, causes frameshift and premature stop codon 190  
A*26:25N
Insertion
Exon 2, 280-281insC, in codon 70, causes frameshift and premature stop at codon 74  
A*26:60N Point Exon 3, 424-426>TAC>TAG, causes Y118X, a premature stop at codon 118  
A*26:71N Point Exon 2, 223-225>TGG>TAG, causes W51X, a premature stop at codon 51  
A*29:01:01:02N
Point
Intron 4, g1846G>T, causes incorrect splicing and premature stop codon Elsner et al. Tissue Antigens. 2002 59:139-41
A*29:08N
Point
Exon 2, 223-225TGG>TAG, causes W51X, a premature stop at codon 51  
A*30:27N
Point
Exon 3, 535-537GAG>TAG, causes Q155X, a premature stop at codon 155  
A*30:59N Point Exon 3, 454-456GAG>TAG, causes E128X, a premature stop at codon 128  
A*30:70N Delewtion Exon 2, 208-210delG, in codon 46, causes frame shift and premature stop at codon 52  
A*30:73N Insertion Exon 3, 516-517insCGGACATGGCGGCTCAGATCACCCAGCGCAAGTGGGAG, in codon 148, causes a frame shift and a premature stop codon at codon 169  
A*31:14N
Insertion
Exon 4, 627-628insC, in codon 186, causes frameshift and premature stop at codon 196 Smith et al. Tissue Antigens. 2006 68:526-7
A*31:60N Point Exon 3, 373-375TGC>TGA , causes G101X, a premature stop at codon 101  
A*32:19N
Point
Exon 3, 571-573GGG>TGA, causes G167X, a premature stop at codon 167 Balas A et al. Tissue Antigens. 2009 74:553-4
A*32:27N Point Exon 2, 286-288CAG>TAG, causes Q72X, a premature stop at codon 72  
A*32:45N Point Exon 3, 508-510AAG>TAG, causes K146X, a premature stop at codon 146  
A*32:48N Point Exon 3, 409-411 TAC>TAG, causes Y113X, a premature stop at codon 113  
A*32:56N Deletion Exon 2, 233delA, in codon 54, causes frame shift and premature stop codon at codon 67  
A*34:10N Point Exon 3, 415-417 CAG-TAG, causes Q115X, a premature stop at codon 115  
A*68:11N
Deletion
Exon 1,46delG, in codon 9, causes frameshift and premature stop at codon -6 Laforet et al. Tissue Antigens. 1999 53:573-5
A*68:18N
Insertion
Exon 2, 213-214insCGAGCCAGAGGATGGAGCCG, in codon 48, causes frameshift and premature stop at codon 59 Dormoy et al. Tissue Antigens. 2002 60:88-90
A*68:49N Point Exon 3,511-513TGG>TAG, causes W147X, a premature stop at codon 147  
A*68:59N Point Exon 3, 511-513TGG>TAG, causes W147X, a premature stop at codon 147  
A*68:94N Point Exon 2, 253-255TGG>TAG , causes W51X, a premature stop at codon 51  
A*74:12N
Deletion
Exon 3, 357-362delCCAG AT, causes deletion of codons 96-97. Protein is not detected at cell surface by pan-class I antibody.  
A*74:14N
Point
Exon 2, 223-225TGG>TGA, causes W51X, a premature stop at codon 51  
B*07:49N
Point
Exon 4, 892-894TGG>TAG, causes W274X, a premature stop at codon 274 Perrier et al. Tissue Antigens. 2007 70:341-3
B*07:67N
Deletion
Exon 2, 117delC, in codon 15, causes frameshift and premature stop at codon 34  
B*07:111N Point Exon 2, 325-327TAC>TAA, causes Y85X, a premature stop at codon 85  
B*07:135N Point Exon 3, 553-555GAG>TAG, causes G161X, premature stop at codon 161  
B*07:161N Insertion Exon 5, 151T, in codon 297, causes a frame shift and premature stop at codon 308  
B*07:167N Point Exon 3, 502-504 CAG-TAG, causes Q144X, a premature stop at codon 144  
B*07:181N Point Exon 2, 265C>T, causes Q65X, a premature stop at codon 65  
B*07:182N Point Exon 3, 420C>A, causes Y116X, a premature stop codon at 116  
B*08:08N
Deletion
Exon 3,473delC, in codon 134, causes frameshift and premature stop at codon 189 Carter et al. Tissue Antigens. 2000 55:61-4
B*08:19N
Point
Exon 4, 724-726CAG>TAG codon 218, causes Q218X, a premature stop at codon 218  
B*08:30N
Point
Exon 3,424-426TAC>TAA, causes Y118X, a premature stop at codon 118  
B*08:67N Point Exon 2, 223-225TGG>TGA, causes W51X, a premature stop at codon 51  
B*08:72N Point Exon 2, 295-297CGA>TGA, causes R75X, premature stop at codon 75  
B*08:82N Point Exon 3, 589-591GAG>TAG, causes E173X, a premature stop at codon 173  
B*08:86N Point Exon 3, 571-573TGG>TGA, causes W167X, a premature stop at codon 167  
B*13:07N
Deletion
Exon 2, 254-268delACCGGAA CACACAGA, codons 61-65, causes no frameshift, but exon 2 is 5aa shorter  
B*13:49N Point Exon 3, 439-441TAC>TAA, causes Y123X, premature stop at codon 123  
B*13:56N Point Exon 3, 424-426TAC>TAA, casues Y118X, premature stop at codon 118  
B*13:63N Insertion Exon 3, 583-585insA, in codon 171, causes frame shift and premature stop at codon 171  
B*14:07N
Point
Exon 3, 562-564TGC>TGA, causes C164X, a premature stop at codon 164  
B*15:01:01:02N
Deletion
Intron 1, g175-184delCGGGTC TCAG, effecting splice site for exon 2 Curran et al. Tissue Antigens. 1999 53:244-52
B*15:26N
Point
Exon 3, 367-269TAC>TAA, causes Y99X, a premature stop at codon 99 Mine et al. Tissue Antigens. 1997 50:351-4
B*15:79N
Insertion
Exon 2, 328-329insCA, in codon 86, causes frameshift and premature stop at codon 127  
B*15:94N
Point
Exon 2, 295-295CGA>TGA, causes R75X, a premature stop at codon 75  
B*15:111N
Deletion
Exon 3, 527-538delAGGC GGAGCA, codons 152-155, causes a frameshift and premature stop at codon 186  
B*15:149N
Deletion
Exon 2, 264-265delAC, in codon 65, causes frameshift and premature stop at codon 113 Zou et al. Tissue Antigens. 2009 74:447-9
B*15:181N
Point
Exon 3, 502-504CAG>TAG, causes Q144X, a premature stop at codon 144  
B*15:182N
Point
Exon 2, 91-93TAT>TAG, causes Y7X, a premature stop at codon 7  
B*15:190N Point Exon 3,511-513TGG>TGA, causes W147X, a premature stop at codon 147  
B*15:209N Point Exon 3, 469-471TGG>TGA, causes W133X, a premature stop at codon 133  
B*15:226N Point Exon 2, 331-333CAG>TAG, causes Q87X, a premature stop at 87  
B*15:246N Deletion Exon 2, 264-265delAC, in codon 65, causes frameshift and premature stop at codon 113  
B*15:258N Point Exon 3, 583-585 TAC-TAA, causes Y171X, a premature stop at codon 171  
B*15:262N Point Exon 3,367-369insGACG, in codon 99, causes frame shift and premature stop at codon 115  
B*15:272N Point Exon 3, 426C>G, causes Y118X, a premature stop codon at 118  
B*18:17N
Point
Exon 1, 40-42TCG>TAG, causes W-11X, a premature stop at codon -11 den Hollander et al. Tissue Antigens. 2002 59:341-3
B*18:23N
Point
Exon 3, 610-612CAG>TAG, causes Q180X, a premature stop at codon 180  
B*18:74N Point Exon 3, 553-555GAG>TAG, causes E161X, a premature stop at codon 161  
B*27:59N
Point
Exon 2, 286-288CAG>TAG, causes Q72X, a premature stop at codon 72  
B*27:64N
Point
Exon 3, 454-456GAG>TAG, causes E128X, a premature stop at codon 128  
B*27:65N
Point
Exon 2, 232-234CAG>TAG, causes Q54X, a premature stop at codon 54  
B*27:94N Point Exon 2, 250-252 TGG-TAG, causes W60X, a premature stop at codon 60  
B*35:40N
Deletion
Exon 4, 807delA, in codon 245, causes frameshift and premature stop at codon 272 Dunne et al. Tissue Antigens. 2002 59:522-4
B*35:53N
Deletion
Exon 3, 473-477delCCGC, in codons 134-135, causes frameshift and premature stop at codon 155  
B*35:129N Point Exon 2, 286-288CAG>TAG, causes Q72X, a premature stop at codon 72  
B*35:130N Point Exon 2, 151-153TAC>TAA, causes Y27X, a premature stop at codon 27  
B*35:134N Point Exon 4, 782-784TGG>TGA, causes W224X, a premature stop at 224  
B*35:145N Insertion Exon 3, 532-533insGCGG, in codon 154 causes a frameshift and premature stop codon at 197  
B*35:165N Point Exon 3,373-375TGC>TGA, causes C101X, a premature stop at 101  
B*35:173N Point Exon 2, 222-225TGG>TAG, causes W51X, premature stop at codon 51  
B*35:216N Point Exon 2, 331-333 CAG-TAG, causes Q87X, a premature stop at codon 87  
B*37:03N
Point
Exon 2, 337-339GAG>TAG, causes E89X, a premature stop at codon 89  
B*37:30N Point Exon 3, 469-471TGG>TAG, causes W133X, premature stop at codon 133  
B*37:33N Point Exon 2, 250-252TGG>TAG, causes W60X, a premature stop at codon 60  
B*38:34N Point Exon 2, 286-288CAG>TAG, causes Q72X, premature stop at codon 72  
B*39:25N
Deletion
Exon 3, 403-404delGC, in codon 111, causes frameshift and premature stop at codon 113  
B*39:40N
Point
Exon 3, 562-564TGC>TGA, causes C164X, a premature stop at codon 164  
B*39:40:02N Point Exon 3, 562-564 TGC-TGA, causes C164X, a premature stop at codon 164  
B*40:22N
Point
Exon 2, 244-246GAG>TAG, causes E58X, a premature stop at codon 58 Tamouza et al. Tissue Antigens. 2000 55:378-80
B*40:118N Point Exon 3, 454-456GAG>TAG, causes E128X, a premature stop at codon 128  
B*40:142N Deletion Exon 2, 253delG, in codon 61, causes frameshift and premature stop at codon 251  
B*40:144N Point Exon 4, 826-828GGA>TGA, causes G252X, a premature stop at codon 252  
B*40:155N Insertion Exon 3, 593-594insAGAAC, in codon 174, causes frameshift and premature stop at codon 191  
B*44:19N
Deletion
Exon 1, 5delT, in codon -23, causes frameshift and premature stop codon at -6 Bettens et al. Tissue Antigens. 2000 56:441-5
B*44:23N
Point
Exon 3, 493-495CAG>TAG, causes Q141X, a premature stop at codon 141 Cox et al. Tissue Antigens. 2003 61:20-48
Hammond et al. Eur. J. Immunogenet. 2003 30:385-6
B*44:52N
Deletion
Exon 3,492-505delTCAGATCAC CCAGC, in codons 141-144, causes frameshift and premature stop at codon 191  
B*44:56N
Point
Exon 3, 367-369TAC>TAA, causes Y99X, a premature stop at codon 99 Tijssen et al. Tissue Antigens. 2009 73:607-9
B*44:58N
Point
Exon 2, 295-297CGA>TGA, causes R75X, a premature stop at codon 75 Lazaro et al. Tissue Antigens. 2009 74:238-40
B*44:61N
Point
Exon 2,208-210GAG>TAG, causes E46X, a premature stop at codon 46  
B*44:108N Point Exon 3, 610-612CAG>TAG, causes Q180X, a premature stop at codon 180  
B*44:149N Point Exon 3, 358-360CAG>TAG, causes Q96X, a premature stop at codon 96  
B*44:171N Point Exon 2, 259A>T, causes E63X, a premature stop at codon 63  
B*46:07N
Point
Exon 3, 562-564TGC>TGA, causes C164X, a premature stop at codon 164 Tang et al. Tissue Antigens. 2006 68:518-20
B*46:15N
Point
Exon 4,736-738GAG>TAG, causes E222X, a premature stop at codon 222  
B*49:19N Point Exon 3, 469-471TGG>TAG, causes W133X, premature stop at codon 133  
B*51:11N
Insertion
Exon 4, 627- 628insC, in codon 186 causes frameshift and premature stop at codon 196 Elsner et al. Tissue Antigens. 2001 57:369-72
B*51:27N
Point
Exon 3, 502-504CAG>TAG, causes Q144X, a premature stop at codon 144 Hou et al. Tissue Antigens. 2002 60:262-5
B*51:41N
Point
Exon 2, 295-297CGA>TGA, causes R75X, a premature stop at codon 75  
B*51:44N
Point
Exon 2, 265-267CAG>TAG, causes Q65X, a premature stop codon 65  
B*51:98N Point Exon 2, 127-129GAG>TAG, causes E19X, a premature stop at codon 19  
B*51:110N Point Exon 2, 325-327TAC>TAG, causes Y85X, a premature stop codon 85  
B*51:118N Deletion Exon 2, 264-265delAC, in codons 64-65, causes frameshift and premature stop at codon 113  
B*51:149N Deletion Exon 3, 611delA, in codon 180, causes frame shift and premature stop codon at codon 189  
B*54:05N
Deletion
Exon 2, 212-232delCGCGGGCGCCGTGGATAGAGC, in codons 46-54, causes no frameshift but deletion of 7aa  
B*54:08N
Point
Exon 3, 553-554GAG>TAG, causes E161X, a premature stop at codon 161 Yan et al. Tissue Antigens. 2006 68:182
B*55:55N Point Exon 3, 547-549TAC>TAA, causes Y159X, a premature stop at codon 159  
B*56:19N
Point
Exon 3, 562-564TGC>TGA, causes C164X, a premature stop at codon 164  
B*56:28N Point Exon 2, 247-249TGG>TGA, causes W59X, a premature stop at codon 59  
B*56:38N Point Exon 2, 166-168 CAG-TAG, causes Q32X, a premature stop at codon 32  
B*57:28N Point Exon 3, 418-420TAC>TAG, causes Y116X, a premature stop at codon 116 Cosentini et al. Int. J. Immunogenetics 2010 37:299-300
B*58:10N
Deletion
Exon 3, 366delG, in codon 98, causes frameshift and premature stop at codon 126  
B*58:17N
Deletion
Exon 3, 311delA, in codon 80, causes frameshift and premature stop at codon 126 Lazaro et al. Tissue Antigens. 2009 73:364-72 2009
B*58:31N Deletion Exon 4, 872-894delCGAAGCCCCTCACCCTGAGATGG, causes a premature stop at codon 300  
B*58:39N Point Exon 2, 208-210 GAG-TAG, causes E46X, a premature stop at codon 46  
B*81:04N
Point
Exon 2, 244-246GAG>TAG, causes E58X, a premature stop at codon 58 Lazaro et al. Tissue Antigens. 2009 73:364-72 2009
C*01:37N
Point
Exon 2, 361-363TGG>TGA, causes W97X, a premature stop at codon 97  
C*01:56N Point Exon 2, 331-333CAG>TAG, causes Q87X, a premature stop at codon 87  
C*01:69N Point Exon 2, 295-297CGA>TGA, causes R75X, a premature stop at codon 75  
C*02:38N
Point
Exon 3, 367-369TAC>TAA, causes Y99X, a premature stop at codon 99  
C*02:52N Point Exon 2, 151-153TAC>TAA, causes Y27X, premature stop at codon 27  
C*03:20N
Point
Exon 1, 19-21CGA>TGA, causes R-18X, a premature stop at codon -18  
C*03:121N Point Exon 3, 511-513TGG>TGA, causes W147X, premature stop at codon 147  
C*03:189N Point Exon 2, 153C>G, causes Y27X, a premature stop codon at 27  
C*04:09N
Deletion
Exon 7, 1095delA, in codon 341, causes frameshift and loss of stop codon in exon 8, resulting in the peptide containing an additional 32 amino acids Balas et al. Tissue Antigens. 2002 59:95-100
C*04:88N Point Exon 2, 331-333CAG>TAG, causes Q87X, a premature stop at 87  
C*04:93N Point Exon 3, 373-375TGC>TGA, causes C101X, premature stop at codon 101  
C*04:95N Point Exon 3, 547-549TAC>TAA, causes W159X, premature stop at codon 159  
C*04:105N Point Exon 2, 247-249TAT>TAG, causes Y59X, a premature stop at codon 59  
C*04:115N Point Exon 2, 49-51GAG>TAG, causes A49X, a premature stop at codon 49  
C*04:123N Point Exon 2, 115-117CAG>TAG, causes Q115X, a premature stop at codon 115  
C*05:07N
Deletion
Exon 3, 352-353delAC, in codon 94, causes frameshift and premature stop codon at 113  
C*05:48N Point Exon 2, 166-168CAG>TAG, causes Q32X, a premature stop at codon 32  
C*05:91N Point Exon 2, 337T>G, causes E89X, a premature stop codon at 89  
C*06:16N
Deletion
Exon 3, 499-500delAC, in codon 144, causes a frameshift and premature stop at codon 151 Lebedeva et al. Tissue Antigens. 2007 70:441-2
C*06:46N Point Exon 4, 742-744CAA>TAA, causes Q224X, a premature stop at codon 224  
C*06:49N Point Exon 3, 373-375TGC>TGA, causes C101X, a premature stop at codon 101  
C*06:79N Point Exon 3, 538-540TGG>TGA, causes R156X, a premature stop at codon 156  
C*07:32N
Insertion
Exon 3, 560-561insCGCAGAT, in codon 163, causes frameshift and premature stop at codon 198  
C*07:33N
Deletion
Exon 2, 92delA, in codon 7, causes frameshift and premature stop at codon 76 Lazaro et al. Tissue Antigens. 2008 71:560-3
C*07:55N
Point
Exon 3,409-411TAT>TAG, causes Y113X, a premature stop at codon 113  
C*07:98N
Point
Exon 3,493-495CAG>TAG, causes Q141X, a premature stop at codon 141  
C*07:104N Point Exon 3, 424-426TAC>TAA, causes Y118X, a premature stop at codon 118  
C*07:152N Point Exon 2, 295-297CGA>TGA, causes R75X, a premature stop at codon 75  
C*07:164N Point Exon 2, 325-327TAC>TAA, causes Y85X, a premature stop at 85  
C*07:191N Point Exon 3, 454-456GAG>TAG, causes E128X, a premature stop at codon 128  
C*07:198N Point Exon 2, 202-204AGA>TGA, causes R44X, premature stop at codon 44  
C*07:227N Point Exon 2, 124-126GGA>TGA, causes 18GX, premature stop at codon 18  
C*07:264N Point Exon 3, 535-537 CAG-TAG, causes Q155X, a premature stop at codon 155  
C*08:36N
Point
Exon 3,439-441TAC>TAG, causes Y123X, a premature stop at codon 123  
C*08:52N Deletion Exon 4, 678delG, in codon 202, causes frameshift and premature stop at codon 215  
C*08:55N Point Exon 2, 175-178CGG>TAG, causes R35X, a premature stop at codon 35  
C*12:39N
Point
Exon 2, 250-252TGG>TAG, causes W60X, a premature stop at codon 60  
C*12:46N Point Exon 3, 424-429TAC>TAG, causes Y118X, a premature stop at codon 118  
C*12:80N Point Exon 2, 250-252TGG>TAG, causes W60X, a premature stop at codon 60  
C*12:84N Insertion Exon 2, 202-204insA, in codon 44, causes frame shift and premature stop at codon 75  
C*14:07N
Point
Exon 3, 583-585TAC-TAA, causes Y171X, a premature stop at codon 171  
C*14:21N
Point
Exon 3, 424-426TAC>TAA, causes Y118X, a premature stop at codon 118  
C*14:35N Point Exon 3 361-363TGG>TGA, causes W97X, premature stop at codon 97  
C*14:47N Point Exon 3, 471G>A, causes W133X, a premature stop at codon 133  
C*16:30N Point Exon 2, 331-333CAG>TAG, causes Q87X, a premature stop at 87  
G*01:05N
Deletion
Exon 3, 460delC, in codon 130, causes frameshift and premature stop at codon 171 Suarez et al. Immunogenetics. 1997 45:464-5
Pyo et al. Immunogenetics. 2006 58:241-51
G*01:13N
Point
Exon 2, 232-234CAG>TAG, causes Q54X, a premature stop at codon 54 Lajoie et al. Tissue Antigens. 2008 72:502-4
DOA*01:04N
Deletion
Exon 2, 108delC, in codon 11, causes frameshift and premature stop at codon 37 Moon et al. Tissue Antigens. 2005 66:242-5
DPB1*23:02N
Point
Exon 2, 115-118CAG>TAG, causes Q10X, a premature stop at codon 10  
DPB1*61:01N
Point
Exon 2, 286-288GAG>TAG, causes E67X, a premature stop at codon 67 Zimmerman et al. Tissue Antigens. 1996 47:293-9
DPB1*64:01N
Point
Exon 2, 106-108TAC>TAA, causes Y7X, a premature stop at codon 7 Steiner et al. Tissue Antigens. 1997 49:262-6
DPB1*154:01N Point Exon 2, 271C>T, causes Q62X, a premature stop codon at 62  
DPB1*159:01N Point Exon 2, 361C>T, causes R92X, a premature stop codon at 92  
DPB1*161:01N Point Exon 2, 340G>T, causes E85X, a premature stop codon at 85  
DQA1*04:03N
Point
Exon 2, 236-238AAA>TAA, causes Q53X, a premature stop at codon 53 Luo et al. Tissue Antigens. 2004 63:609-11
DQB1*02:18N Point Exon 2, 279G>A, causes W61X, a premature stop codon at 61  
DQB1*02:20N Point Exon 2, 376C>T, causes R94X, a premature stop codon at 94  
DQB1*03:66N Point Exon 2, 278G>A, causes W61X, a premature stop codon at 61  
DQB1*06:26N
Point
Exon 2, 181-183AGA>TGA, causes R29X, a premature stop at codon 29  
DQB1*06:54N Point Exon 2, 279G>A, causes W61X, a premature stop codon at 61  
DQB1*06:75N Point Exon 2, 276C>G, causes Y60X, a premature stop codon at 60  
DQB1*06:77N Point Exon 2, 253C>T, causes Q53X, a premature stop codon at 53  
DRB1*01:33N Deletion Exon 2, 123delG, causes frameshift and premature stop codon at 50  
DRB1*01:39N Point Exon 2, 112-114TGG>TGA, causes W9X, a premature stop at codon 9  
DRB1*01:40N Point Exon 2, 112-114TGG>TGA, causes W9X, a premature stop at codon 9  
DRB1*01:52N Point Exon 2, 336-338 TAC-TAG, causes Y83X, a premature stop at codon 83  
DRB1*03:67N Point Exon 2, 268-270TGG>TGA, causes W61X, a premature stop at codon 61  
DRB1*03:68N Point Exon 2, 367-369CGA>TGA, causes R94X, a premature stop at codon 94  
DRB1*04:81N
Deletion
Exon 2, 296-297delAG, in codon 70, causes frameshift and premature stop at codon 86  
DRB1*04:94N Point Exon 2, 319-321TAC>TAA, causes Y78X, a premature stop at codon 78  
DRB1*04:119N Point Exon 2, 334-336TAC>TAG, causes Y83X, a premature stop at codon 83  
DRB1*04:120N Point Exon 2, 319-332TAC>TAA, causes Y78X, a premature stop at codon 78  
DRB1*04:142N Point Exon 2, 336C>A, causes Y83X, a premature stop at codon 83  
DRB1*04:157N Point Exon 2, 321C>A, causes Y78X, a premature stop codon at 78  
DRB1*04:158N Insertion  Exon 2, 304-305insG, in codon 73, causes a frame shift and premature stop codon at codon 87  
DRB1*07:10N
Deletion
Exon 2, 175-176delTG, in codon 30, causes frameshift and premature stop at codon 32 Eiz-Vesper et al. Immunogenetics. 2007 59:507-10
DRB1*12:24N Point Exon 2, 268-270TGG>TAG, causes Y61X, a premature stop at codon 61  
DRB1*12:31N Point Exon 2, 127-129GAA>TAG, causes E14X, a premature stop at codon 14  
DRB1*13:113N Deletion Exon 3, 246delG, causes frameshift and premature stop at codon 99  
DRB1*13:137N Point Exon 2 298-300AGG>TAG, causes R71X, a premature stop at codon 71  
DRB1*13:142N Point Exon 2, 277-279CAG>TAG, causes Q64X, a premature stop at codon 64  
DRB1*14:92N
Point
Exon 2, 190-192GAG>TAG, causes E35X, a premature stop at codon 35
DRB1*14:137N Insertion Exon 2, 304-305insG, in codon 73, causes frame shift and premature stop at codon 98  
DRB1*15:17N
Insertion
Exon 2, 294-295insGA, in codon70, causes frameshift and premature stop at codon 100 Lebedeva et al. Tissue Antigens. 2005 66:334-5
DRB1*15:50N Deletion Exon 2, 303-304delGG, causes frameshift and premature stop codon at 97  
DRB1*15:80N Point Exon 2, 301-303delG 304-306delG, in codon 72 and 73, causes frame shift and premature stop at codon 86  
DRB1*16:13N
Point
Exon 2, 241-243GAG>TAG, causes E52X, a premature stop at codon 52 Zhao et al. Tissue Antigens. 2008 71:180-2
DRB1*16:21N Deletion Exon 2, 170-171delAA, in codon 28, causes frame shift and premature stop codon at codon 32  
DRB3*02:29N Deletion Exon 3, 591-595delTGG G, in codons 167-168, causes frameshift and premature stop at codon 191  
DRB4*01:03:01:02N
Point
Incorrect splicing results in lack of protein sequence Sutton et al. Immunogenetics. 1990 31:112-7
Naruse et al. Tissue Antigens. 1997 49:152-9
DRB4*02:01N
Deletion
Exon 2, 155-165delGGGTGC GGTTG, in codons 23-26, causes frameshift and premature stop at codon 29 Robbins et al. Immunogenetics. 1997 46:104-10
DRB4*03:01N
Undefined
The allele contains sequence for intron 2 and exon 3, but has no preceding exon sequences Robbins et al. Immunogenetics. 1997 46:104-10
DRB5*01:08N
Deletion
Exon 3, 572-590delAAACAGTTC CTCGGAGTGG, in codons 162-168, causes frameshift and possible stop codon after 171 Voorter et al. Tissue Antigens. 1997 50:326-33
DRB5*01:10N
Deletion
Exon 2, 326- 327delGA, in codon 80, causes frameshift and premature stop at codon 86 Balas et al. Tissue Antigens. 2000 55:467-9
MICA*063N Point Exon 2, 184-186CAG>TAG, causes Q39X, a premature stop at codon 39  
MICA*064N Point Exon 4, 799-801TGG>TGA, causes W244X, a premature stop at codon 244  
MICB*009N
Point
Exon 3, 577-579CGA>TGA, causes R170X, a premature stop at codon 170 Ando et al. Immunogenetics. 1997 46:499-508
MICB*021N
Deletion
Exon 2, 205delC, in codon 69, causes frameshift and premature stop at codon 89 Schroeder et al. Tissue Antigens. 2004 64:276-80
TAP1*01:02N
Point
Exon, 599delG, in codon 200, causes frameshift and premature stop at codon 228 Furukawa et al. J. Clin. Invest. 1999 103:755-8

Alternatively Expressed Alleles

Allele Mutation      Description of Mutation References
A*01:01:38L Point Exon 4, 703-705GCG>GCA, causing an aberrant dominant splice site which results in low expression  
A*02:01:01:02L   
Point
Promoter Region, g-101T>C, causes a mutation in the Enhancer B region of the promoter Balas et al. Hum Immunol. 1994 41:69-73
Perrier et al. Tissue Antigens. 2006 68:442-5
A*02:01:14Q Point Exon 4, 703-705GCG>GCA, causing an aberrant dominant splice site which may may effect expression  
A*02:293Q Point Exon 3, 562-564TGC>TGG, causes C164W, this change affects the disulphide bond altering conformation of HLA-A and affecting expression  
A*11:50Q Point Exon 3, 562-564TGC>TTC, causes C164F, this change affects the disulphide bond altering conformation of HLA-A and affecting expression  
A*11:52Q Deletion Exon 2, 103-105delTCC, causes deletion of codon 11, this change affects the disulphide bond altering conformation of HLA-A and affecting expression  
A*23:19Q
Point
Exon 3, 619G>A, in codon 183, mutation occurs at exon boundary, potentially affecting the splice site and affecting expression  
A*24:02:01:02L
Point
Intron 2, g708G>A, causes a mutation in the splice site prior to exon 3 Magor et al. J. Immunol. 1997 158:5242-50
Laforet et al. Tissue Antigens. 1997 50:340-6
Zanone-Ramseier et al. Transplantation. 1999 67:1336-41
Dunn et al. Tissue Antigens. 2004 63:589-91
A*24:02:03Q Point Exon 4, 703-705GCG>GCA, causing an aberrant dominant splice site which may may effect expression  
A*30:14L
Point
Exon 3, 562-564TGC>TCC, causes C164S, this change affects the disulphide bond altering conformation of HLA-A and affecting expression  
A*32:11Q
Point
Exon 3, 562-564TGC>TTC, causes C164F, this change affects the disulphide bond altering conformation of HLA-A and affecting expression Tang et al. Tissue Antigens. 2006 68:518-20
A*33:03:03Q Point Exon 4, 703-705GCG>GCA, causing an aberrant dominant splice site which may may effect expression  
B*13:08Q
Point
Exon 3, 547-549TAC>TGC, causes Y159C, this change affects the disulphide bond altering conformation of HLA-B and affecting expression  
B*15:218Q Point Exon 3, 562-564TGC>TAC, causes C164Y, this change affects the disulphide bond altering conformation of HLA-B and affecting expression  
B*35:65Q
Point
Exon 3, 562-564TGC>TGG, causes C164W, this change affects the disulphide bond altering conformation of HLA-B and affecting expression Elsner et al. Immunogenetics. 2006 58:929-31
B*37:16Q
Point
Exon 3, 562-564TGC>TAG, causes C164Y, this change affects the disulphide bond altering conformation of HLA-B and affecting expression  
B*39:01:01:02L
Deletion
Promoter region, g-151-152delTC, causes a decrease in promoter activity and low expression of the allele is seen  
B*39:38Q
Point
Exon 3, 562-564TGC>TTC, causes C164F, this change affects the disulphide bond altering conformation of HLA-B and affecting expression Tang et al. Tissue Antigens. 2006 68:518-20
B*40:133Q
Point
Exon 3, 562-564TGC>CGC, causes C164R, this change affects the disulphide bond altering conformation of HLA-B and affecting expression  
B*44:02:01:02S
Point
Intron 4, g1934A>G, causes an incorrect splicing leading to the deletion of exon 5 Dubois et al. Tissue Antigens. 2004 63:173-80
B*44:138Q Deletion Exon 3, 353-355delCCC, causes deletion of codon 94, this change affects the disulphide bond altering conformation of HLA-B and affecting expression  
C*02:25Q
Point
Exon 3, 373-375TGC>TAC, causes C101Y, this change affects the disulphide bond altering conformation of HLA-C and affecting expression  
C*03:22Q
Point
Exon 3, 373-375TGC>TAC, causes C101Y, this change affects the disulphide bond altering conformation of HLA-C and affecting expression Middleton et al. Tissue Antigens. 2006 67:343-5
C*04:59Q
Point
Exon 3, 562-564TGC>TAG, causes C161Y, this change affects the disulphide bond altering conformation of HLA-C and affecting expression  
C*05:51Q Deletion Exon 3, 553-567delGAGGGCACGTGTGCGTG, causes deletion of codons 161-165, this change affects the disulphide bond altering conformation of HLA-C and affecting expression  
C*07:121Q
Point
Exon 3, 562-564TGC>CGC, causes C164F, this change affects the disulphide bond altering conformation of HLA-C and affecting expression  
C*07:150Q Insertion Exon 3, 499-500insCCCAGCGCAAGGTCAGATCA, in codon 143, this change may affect the disulphide bond altering conformation of HLA-C and affecting expression  
C*12:42Q
Point
Exon 3, 562-564TGC>TGG, causes C164F, this change affects the disulphide bond altering conformation of HLA-C and affecting expression  
C*15:32Q
Point
Exon 3, 562-564TGC>GGC, causes C164R, this change affects the disulphide bond altering conformation of HLA-C and affecting expression  
C*16:16Q
Point
Exon 3, 562-564TGC>TAG, causes C164Y, this change affects the disulphide bond altering conformation of HLA-C and affecting expression  

Describing the mutations

The following recommendations are used for describing mutations in nucleotide sequences;

Mutations in protein sequences follow a similar format;