(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the RPS7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering RPS7 transcript NM_001011.3.
(upstream sequence)
. . . . g.1046
gcgctgtttccgcctcttgccttcggacgccggattttgacgtgct c.-61
. . . . . | 02 . g.1347
ctcgcgagatttgggtctcttcctaagccggcgctcggcaag | ttctcccaggagaaagcc c.-1
. . . . . . g.1407
ATGTTCAGTTCGAGCGCCAAGATCGTGAAGCCCAATGGCGAGAAGCCGGACGAGTTCGAG c.60
M F S S S A K I V K P N G E K P D E F E p.20
. | 03 . . . . . g.1599
TCCGGCATCTCCCAG | GCTCTTCTGGAGCTGGAGATGAACTCGGACCTCAAGGCTCAGCTC c.120
S G I S Q | A L L E L E M N S D L K A Q L p.40
. . | 04. . . . g.2257
AGGGAGCTGAATATTACGGCAGCTAAG | GAAATTGAAGTTGGTGGTGGTCGGAAAGCTATC c.180
R E L N I T A A K | E I E V G G G R K A I p.60
. . . . . . g.2317
ATAATCTTTGTTCCCGTTCCTCAACTGAAATCTTTCCAGAAAATCCAAGTCCGGCTAGTA c.240
I I F V P V P Q L K S F Q K I Q V R L V p.80
. . . . . | 05 . g.3456
CGCGAATTGGAGAAAAAGTTCAGTGGGAAGCATGTCGTCTTTATCGCTCAG | AGGAGAATT c.300
R E L E K K F S G K H V V F I A Q | R R I p.100
. . . . . | 06 . g.5851
CTGCCTAAGCCAACTCGAAAAAGCCGTACAAAAAATAAGCAAAAGCGTCCCAGGAG | CCGT c.360
L P K P T R K S R T K N K Q K R P R S | R p.120
. . . . . . g.5911
ACTCTGACAGCTGTGCACGATGCCATCCTTGAGGACTTGGTCTTCCCAAGCGAAATTGTG c.420
T L T A V H D A I L E D L V F P S E I V p.140
. . . . . . g.5971
GGCAAGAGAATCCGCGTCAAACTAGATGGCAGCCGGCTCATAAAGGTTCATTTGGACAAA c.480
G K R I R V K L D G S R L I K V H L D K p.160
. . | 07. . . . g.6575
GCACAGCAGAACAATGTGGAACACAAG | GTTGAAACTTTTTCTGGTGTCTATAAGAAGCTC c.540
A Q Q N N V E H K | V E T F S G V Y K K L p.180
. . . . g.6620
ACGGGCAAGGATGTTAATTTTGAATTCCCAGAGTTTCAATTGTAA c.585
T G K D V N F E F P E F Q L X p.194
. . . g.6657
acaaaaatgactaaataaaaagtatatattcacagta c.*37
(downstream sequence)
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