(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the RPL26 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering RPL26 transcript NM_000987.3.(upstream sequence) . . . . . . g.60 CTTGCTGGGGTGAATGCCTACGTGGACAGTTGTGCCATTAGCCTTTTCCCGCTGCACCCG c.60 L A G V N A Y V D S C A I S L F P L H P p.20 . . . . . . g.120 TTCAATGTAGATAACATATTTCTTCCTGTAAACCTGGACTACTTTGCCAATTTGCTGACC c.120 F N V D N I F L P V N L D Y F A N L L T p.40 . . | 02 . . . . g.2386 TTTATAGTGTCCACGTACAAC | CTGAACTTCATCATCCTTTCGGATGGGCATGGATCGCAC c.180 F I V S T Y N | L N F I I L S D G H G S H p.60 . . . . . . g.2446 GTTGTACTTCTGTCTCAGCTCTTTGGAAAGAGGGGAAGACATAATCTTCCTTCGAATGTG c.240 V V L L S Q L F G K R G R H N L P S N V p.80 . . . . . . g.2506 GGAAGGTGCATTGAAATGCCTTTTGCGATTCTTGCTTCGGTCGGAAGTCACAAAGGGATT c.300 G R C I E M P F A I L A S V G S H K G I p.100 . | 03 . . . . . g.3407 AAACTTCATTTTGG | CCGCTCCCGCTTCGGTGATGGCCGCAAAAGGGAAGAGAACTACACG c.360 K L H F G | R S R F G D G R K R E E N Y T p.120 . g.3425 CTGCTTCCGGTTCTGTAA | c.379 L L P V L X p.125 . . | 04. . . . g.3485 gtttaccaaagatctcgcgagacctat | c c.*28 (downstream sequence)Legend:
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