(used for mutation description)
(last modified April 30, 2014)
This file was created to facilitate the description of sequence variants in the CD3D gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering CD3D transcript NM_000732.4.
(upstream sequence)
. . . . | 02 . . g.340
CTGATAGACCTGGTCATTCCTCAACAGAGCTTGTGTGTCGGCAG | CCCCAGACAGCCTTCC c.60
L I D L V I P Q Q S L C V G S | P R Q P S p.20
. . . . . . g.400
AGTCTCATGTCCAGCAAAGCAGAAGACTCCCAAAGCAAGGAGCAGAGTGGCAATGACATC c.120
S L M S S K A E D S Q S K E Q S G N D I p.40
. . . . . | 03 . g.928
AGTGACAATGATGCCAGCCACGGTGGCTGGATCCAGCTCCACACAGCTCTGGCACA | TTCG c.180
S D N D A S H G G W I Q L H T A L A H | S p.60
. . . . . . g.988
ATAATGAACTTGCACGGTAGATTCTTTGTCCTTGTATATATCTGTCCCATTACACCTATA c.240
I M N L H G R F F V L V Y I C P I T P I p.80
. . . . . g.1042
TATTCCTCGTGGGTCCAGGATGCGTTTTCCCAGGTCCAGTCTTGTAATGTCTGA c.294
Y S S W V Q D A F S Q V Q S C N V X p.97
. . . . . . g.1102
gagcagtgttcccaccgttccctctacccatgtgatgctggtattgcaattcacaaacac c.*60
. . . . | 04 . . g.3121
tctgtcctcaagttcctctataggtatcttgaaggggctca | cttgcgagagaagggtagc c.*120
. . . . . . g.3181
cagtaccaggccagagagaaacgtgctatgttccatctcccagcggaactcatccagtag c.*180
. . . . . . g.3241
ataaagccaggtcaccgaactatcagcctgggtgagagctgccctcccctagctgactca c.*240
. . . . . | 05 . g.3301
caggtaccggaaagaggagagtgggggaggaactagaagatgtctgcttctct | a c.*294
(downstream sequence)
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