(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)
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