(used for variant description)
(last modified July 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000987.3 in the RPL26 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031989.1, covering RPL26 transcript NM_000987.3.
(upstream sequence)
. . . g.5036
ataggtctcgcgagatctttggtaaacttacagaac c.-61
. . . . . . | 02 g.5937
cggaagcagcgtgtagttctcttcccttttgcggccatcaccgaagcgggagcgg | ccaaa c.-1
. . . . . . g.5997
ATGAAGTTTAATCCCTTTGTGACTTCCGACCGAAGCAAGAATCGCAAAAGGCATTTCAAT c.60
M K F N P F V T S D R S K N R K R H F N p.20
. . . . . . g.6057
GCACCTTCCCACATTCGAAGGAAGATTATGTCTTCCCCTCTTTCCAAAGAGCTGAGACAG c.120
A P S H I R R K I M S S P L S K E L R Q p.40
. . . . | 03 . g.8323
AAGTACAACGTGCGATCCATGCCCATCCGAAAGGATGATGAAGTTCAG | GTTGTACGTGGA c.180
K Y N V R S M P I R K D D E V Q | V V R G p.60
. . . . . . g.8383
CACTATAAAGGTCAGCAAATTGGCAAAGTAGTCCAGGTTTACAGGAAGAAATATGTTATC c.240
H Y K G Q Q I G K V V Q V Y R K K Y V I p.80
. . . . . . g.8443
TACATTGAACGGGTGCAGCGGGAAAAGGCTAATGGCACAACTGTCCACGTAGGCATTCAC c.300
Y I E R V Q R E K A N G T T V H V G I H p.100
| 04 . . . . . g.10606
CCCAGCAAG | GTGGTTATCACTAGGCTAAAACTGGACAAAGACCGCAAAAAGATCCTCGAA c.360
P S K | V V I T R L K L D K D R K K I L E p.120
. . . . . . g.10666
CGGAAAGCCAAATCTCGCCAAGTAGGAAAGGAAAAGGGCAAATACAAGGAAGAAACCATT c.420
R K A K S R Q V G K E K G K Y K E E T I p.140
. g.10684
GAGAAGATGCAGGAATAA c.438
E K M Q E X p.145
. . . . g.10732
agtaatcttatatacaagctttgattaaaacttgaaacaaagagcctg c.*48
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 19
©2004-2017 Leiden University Medical Center