(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)Legend:
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