(used for variant description)
(last modified June 11, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_003476.4 in the CSRP3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011932.2, covering CSRP3 transcript NM_003476.4.
(upstream sequence)
. . . . . g.5059
agtgagccgagatcgcgccactacactccagactgggcgacagagccagactccgtctc c.-181
. . . . . . g.5119
aaaaaaaaaaaaaaaaaaagagagagagcaccttaggaatcatctgcctcacacgaatat c.-121
. | 02 . . . . . g.13586
tct | caggccaaggctggtgacagccttcatatatttaaagaggacaagagcccctcagac c.-61
. . . . | 03 . . g.23123
tcagttgagctgaacggagtccacacaggcag | acttgaccttgaccagatagtcttcaag c.-1
. . . . . . g.23183
ATGCCAAACTGGGGCGGAGGCGCAAAATGTGGAGCCTGTGAAAAGACCGTCTACCATGCA c.60
M P N W G G G A K C G A C E K T V Y H A p.20
. . . . . | 04 . g.27275
GAAGAAATCCAGTGCAATGGAAGGAGTTTCCACAAGACGTGTTTCCACTGCA | TGGCCTGC c.120
E E I Q C N G R S F H K T C F H C M | A C p.40
. . . . . . g.27335
AGGAAGGCTCTTGACAGCACGACAGTCGCGGCTCATGAGTCGGAGATCTACTGCAAGGTG c.180
R K A L D S T T V A A H E S E I Y C K V p.60
. . . . . . g.27395
TGCTATGGGCGCAGATATGGCCCCAAAGGGATCGGGTATGGACAAGGCGCTGGCTGTCTC c.240
C Y G R R Y G P K G I G Y G Q G A G C L p.80
. . . . | 05 . . g.29242
AGCACAGACACGGGCGAGCATCTCGGCCTGCAGTTCCAACA | GTCCCCAAAGCCGGCACGC c.300
S T D T G E H L G L Q F Q Q | S P K P A R p.100
. . . . . . g.29302
TCAGTTACCACCAGCAACCCTTCCAAATTCACTGCGAAGTTTGGAGAGTCCGAGAAGTGC c.360
S V T T S N P S K F T A K F G E S E K C p.120
. . . . . | 06 . g.30532
CCTCGATGTGGCAAGTCAGTCTATGCTGCTGAGAAGGTTATGGGAGGTGGCAAG | CCTTGG c.420
P R C G K S V Y A A E K V M G G G K | P W p.140
. . . . . . g.30592
CACAAGACCTGTTTCCGCTGTGCCATCTGTGGGAAGAGTCTGGAGTCCACAAATGTCACT c.480
H K T C F R C A I C G K S L E S T N V T p.160
. . | 07 . . . g.32857
GACAAAGATGGGGAACTTTATTGCAAAG | TTTGCTATGCCAAAAATTTTGGCCCCACGGGT c.540
D K D G E L Y C K V | C Y A K N F G P T G p.180
. . . . g.32902
ATTGGGTTTGGAGGCCTTACACAACAAGTGGAAAAGAAAGAATGA c.585
I G F G G L T Q Q V E K K E X p.194
. . . . . . g.32962
agaggtgcgccgtttctcagattttttgcgagcctaaaacacttgccaagtaatcctgca c.*60
. . . . . . g.33022
cagatcgatacctttccccaaatagcctctcctttgtagtcgtacattatgtgtttctcc c.*120
. . . . . . g.33082
tcagaagtgatcaggtctttactgaatgttagaagaggcctttggaagaaaattatgtaa c.*180
. . . . . . g.33142
agtttaatctataacaaatgctttattatttataatgcttggaatgggagaggcaataaa c.*240
. . . . . . g.33202
taaatgttttagtgctatcttgtatggctctagatcttttctttgagatagaaattttca c.*300
. . . . . . g.33262
aaaacataaagctagttcaaaaaacgagttgcagagcatataataaatttggatgtcaac c.*360
. . . . . . g.33322
tgagaaaggagtgagaaggaagaaacaatgcgcaaaggaaagcagtctttcagaatctgt c.*420
. . . . . . g.33382
cagccaagtgtctttctagttactgctaatggagaagaaaacagggggtctgggagaaaa c.*480
. . . . . . g.33442
tagagaacatgatagcaaaatctaaaaggaaaatcaaaactaataaaattgctgaagagt c.*540
. . . . . . g.33502
tgatccctttgtcctatcgtggggctttgtaatgttacacatctcgtgaaaactcagaaa c.*600
. . . . g.33542
tgacaataaagcgtggcatttgcctctgtattataaatga c.*640
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 15
©2004-2016 Leiden University Medical Center