(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)Legend:
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