(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the RPS26 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering RPS26 transcript NM_001029.3.(upstream sequence) . . g.1025 ggagacacataacctcgattttctt c.-241 . . . . . . g.1085 ccgccatccggctaaatagtcccatgtgcactttgttccatggataaataaacactagga c.-181 . . . . . . g.1145 acgcatttccaccctagatttcagcagaaatgctgaatgtaaaggaatatttgagtaaag c.-121 . . . . . . g.1205 tgagttgccgttcttgaagcccgtctcctaaggattctcccggtgtccgcgtagggatct c.-61 . . . . . . g.1265 catgctatataggagggccctgccaggcaccgtctcctctctccggtccgtgcctccaag c.-1 | 02 . . . . . . g.1580 ATG | ACAAAGAAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCCT c.60 M | T K K R R N N G R A K K G R G H V Q P p.20 . . . . . . g.1640 ATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTAAGAAATTCGTC c.120 I R C T N C A R C V P K D K A I K K F V p.40 . . . . . . g.1700 ATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATTTCTGAAGCGAGCGTCTTCGAT c.180 I R N I V E A A A V R D I S E A S V F D p.60 | 03 . . . . . . g.2520 G | CCTATGTGCTTCCCAAGCTGTATGTGAAGCTACATTACTGTGTGAGTTGTGCAATTCAC c.240 A | Y V L P K L Y V K L H Y C V S C A I H p.80 . . . . . . g.2580 AGCAAAGTAGTCAGGAATCGATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGA c.300 S K V V R N R S R E A R K D R T P P P R p.100 . | 04 . . . g.3265 TTTAGACCTGCG | GGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAA c.348 F R P A | G A A P R P P P K P M X p.115 . . . . . . g.3325 ggagctgagttcttaaagactgaagacaggctattctctggagaaaaataaaatggaaat c.*60 g.3334 tgtacttaa c.*69 (downstream sequence)Legend:
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