(used for mutation description)
(last modified April 29, 2014)
This file was created to facilitate the description of sequence variants in the CD3G gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering CD3G transcript NM_000073.2.
(upstream sequence)
. . g.1047
agtctagctgctgcacaggc c.-61
. . . . . . g.1107
tggctggctggctggctgctaagggctgctccacgcttttgccggaggacagagactgac c.-1
. . . . . | 02 . g.5715
ATGGAACAGGGGAAGGGCCTGGCTGTCCTCATCCTGGCTATCATTCTTCTTCAAG | GTACT c.60
M E Q G K G L A V L I L A I I L L Q G | T p.20
. | 03 . . . . g.6467
TTGGCCCAGTCAATCAAAG | GAAACCACTTGGTTAAGGTGTATGACTATCAAGAAGATGGT c.120
L A Q S I K G | N H L V K V Y D Y Q E D G p.40
. . . . . . g.6527
TCGGTACTTCTGACTTGTGATGCAGAAGCCAAAAATATCACATGGTTTAAAGATGGGAAG c.180
S V L L T C D A E A K N I T W F K D G K p.60
. . . . . . g.6587
ATGATCGGCTTCCTAACTGAAGATAAAAAAAAATGGAATCTGGGAAGTAATGCCAAGGAC c.240
M I G F L T E D K K K W N L G S N A K D p.80
. . . . . . g.6647
CCTCGAGGGATGTATCAGTGTAAAGGATCACAGAACAAGTCAAAACCACTCCAAGTGTAT c.300
P R G M Y Q C K G S Q N K S K P L Q V Y p.100
| 04. . . . . . g.7288
TACAGAA | TGTGTCAGAACTGCATTGAACTAAATGCAGCCACCATATCTGGCTTTCTCTTT c.360
Y R M | C Q N C I E L N A A T I S G F L F p.120
. . . . . . g.7348
GCTGAAATCGTCAGCATTTTCGTCCTTGCTGTTGGGGTCTACTTCATTGCTGGACAGGAT c.420
A E I V S I F V L A V G V Y F I A G Q D p.140
. | 05 . . . . g.8352
GGAGTTCGCCAGTCGAGAG | CTTCAGACAAGCAGACTCTGTTGCCCAATGACCAGCTCTAC c.480
G V R Q S R A | S D K Q T L L P N D Q L Y p.160
| 06 . . . . . . g.9144
CAG | CCCCTCAAGGATCGAGAAGATGACCAGTACAGCCACCTTCAAGGAAACCAGTTGAGG c.540
Q | P L K D R E D D Q Y S H L Q G N Q L R p.180
g.9153
AGGAATTGA | c.550
R N X p.182
. | 07 . . . . g.9844
actcaggactcagagtag | tccaggtgttctcctcctattcagttcccagaatcaaagcaa c.*60
. . . . . . g.9904
tgcattttggaaagctcctagcagagagactttcagccctaaatctagactcaaggttcc c.*120
. . . . . . g.9964
cagagatgacaaatggagaagaaaggccatcagagcaaatttgggggtttctcaaataaa c.*180
. . . . . . g.10024
ataaaaataaaaacaaatactgtgtttcagaagcgccacctattggggaaaattgtaaaa c.*240
. . . . . . g.10084
gaaaaatgaaaagatcaaataaccccctggatttgaatataattttttgtgttgtaattt c.*300
. . . . . . g.10144
ttatttcgtttttgtataggttataattcacatggctcaaatattcagtgaaagctctcc c.*360
. . . . . . g.10204
ctccaccgccatcccctgctacccagtgaccctgttgccctcttcagagacaaattagtt c.*420
. . . . . . g.10264
tctcttttttttttttttttttttttttttgagacagtctggctctgtcacccaggctga c.*480
. . . . . . g.10324
aatgcagtggcaccatctcggctcactgcaacctctgcctcctgggttcaagcgattctc c.*540
. . . . . . g.10384
ctgcctcagcctcccgggcagctgggattacaggcacacactaccacacctggctaattt c.*600
. . . . . . g.10444
ttgtatttttagtagagacagggttttgctctgttggccaagctggtctcgaactcctga c.*660
. . g.10466
cctcaagtgatccgcccgcctc c.*682
(downstream sequence)
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