(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:
Powered by LOVD v.2.0 Build 34
©2004-2014 Leiden University Medical Center