(used for variant description)
(last modified July 16, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_005514.6 in the HLA-B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023187.1, covering HLA-B transcript NM_005514.6.
(upstream sequence)
. . . . . g.5054
agttctaaagtccccacgcacccacccggactcagagtctcctcagacgccgag c.-1
. . . . . . g.5114
ATGCTGGTCATGGCGCCCCGAACCGTCCTCCTGCTGCTCTCGGCGGCCCTGGCCCTGACC c.60
M L V M A P R T V L L L L S A A L A L T p.20
. | 02 . . . . . g.5302
GAGACCTGGGCCG | GCTCCCACTCCATGAGGTATTTCTACACCTCCGTGTCCCGGCCCGGC c.120
E T W A G | S H S M R Y F Y T S V S R P G p.40
. . . . . . g.5362
CGCGGGGAGCCCCGCTTCATCTCAGTGGGCTACGTGGACGACACCCAGTTCGTGAGGTTC c.180
R G E P R F I S V G Y V D D T Q F V R F p.60
. . . . . . g.5422
GACAGCGACGCCGCGAGTCCGAGAGAGGAGCCGCGGGCGCCGTGGATAGAGCAGGAGGGG c.240
D S D A A S P R E E P R A P W I E Q E G p.80
. . . . . . g.5482
CCGGAGTATTGGGACCGGAACACACAGATCTACAAGGCCCAGGCACAGACTGACCGAGAG c.300
P E Y W D R N T Q I Y K A Q A Q T D R E p.100
. . . . | 03 . . g.5787
AGCCTGCGGAACCTGCGCGGCTACTACAACCAGAGCGAGGCCG | GGTCTCACACCCTCCAG c.360
S L R N L R G Y Y N Q S E A G | S H T L Q p.120
. . . . . . g.5847
AGCATGTACGGCTGCGACGTGGGGCCGGACGGGCGCCTCCTCCGCGGGCATGACCAGTAC c.420
S M Y G C D V G P D G R L L R G H D Q Y p.140
. . . . . . g.5907
GCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGCGCTCCTGGACCGCCGCG c.480
A Y D G K D Y I A L N E D L R S W T A A p.160
. . . . . . g.5967
GACACGGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGAGGCGGAGCAGCGG c.540
D T A A Q I T Q R K W E A A R E A E Q R p.180
. . . . . . g.6027
AGAGCCTACCTGGAGGGCGAGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAG c.600
R A Y L E G E C V E W L R R Y L E N G K p.200
. | 04 . . . . g.6661
GACAAGCTGGAGCGCGCTG | ACCCCCCAAAGACACACGTGACCCACCACCCCATCTCTGAC c.660
D K L E R A D | P P K T H V T H H P I S D p.220
. . . . . . g.6721
CATGAGGCCACCCTGAGGTGCTGGGCCCTGGGTTTCTACCCTGCGGAGATCACACTGACC c.720
H E A T L R C W A L G F Y P A E I T L T p.240
. . . . . . g.6781
TGGCAGCGGGATGGCGAGGACCAAACTCAGGACACTGAGCTTGTGGAGACCAGACCAGCA c.780
W Q R D G E D Q T Q D T E L V E T R P A p.260
. . . . . . g.6841
GGAGATAGAACCTTCCAGAAGTGGGCAGCTGTGGTGGTGCCTTCTGGAGAAGAGCAGAGA c.840
G D R T F Q K W A A V V V P S G E E Q R p.280
. . . . . | 05 . g.6994
TACACATGCCATGTACAGCATGAGGGGCTGCCGAAGCCCCTCACCCTGAGATGGG | AGCCG c.900
Y T C H V Q H E G L P K P L T L R W E | P p.300
. . . . . . g.7054
TCTTCCCAGTCCACCGTCCCCATCGTGGGCATTGTTGCTGGCCTGGCTGTCCTAGCAGTT c.960
S S Q S T V P I V G I V A G L A V L A V p.320
. . . . . | 06 . g.7555
GTGGTCATCGGAGCTGTGGTCGCTGCTGTGATGTGTAGGAGGAAGAGTTCAG | GTGGAAAA c.1020
V V I G A V V A A V M C R R K S S G | G K p.340
. . | 07 . . . . g.7721
GGAGGGAGCTACTCTCAGGCTGCGT | GCAGCGACAGTGCCCAGGGCTCTGATGTGTCTCTC c.1080
G G S Y S Q A A C | S D S A Q G S D V S L p.360
g.7730
ACAGCTTGA | c.1090
T A X p.362
| 08 . . . . . . g.7972
aaag | cctgagacagctgtcttgtgagggactgagatgcaggatttcttcacgcctcccct c.*60
. . . . . . g.8032
ttgtgacttcaagagcctctggcatctctttctgcaaaggcacctgaatgtgtctgcgtc c.*120
. . . . . . g.8092
cctgttagcataatgtgaggaggtggagagacagcccacccttgtgtccactgtgacccc c.*180
. . . . . . g.8152
tgttcccatgctgacctgtgtttcctccccagtcatctttcttgttccagagaggtgggg c.*240
. . . . . . g.8212
ctggatgtctccatctctgtctcaactttacgtgcactgagctgcaacttcttacttccc c.*300
. . . . . . g.8272
tactgaaaataagaatctgaatataaatttgttttctcaaatatttgctatgagaggttg c.*360
. . . . . . g.8332
atggattaattaaataagtcaattcctggaatttgagagagcaaataaagacctgagaac c.*420
g.8341
cttccagaa c.*429
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 10c
©2004-2014 Leiden University Medical Center