(used for variant description)
(last modified April 20, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_001021.3 in the RPS17 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering RPS17 transcript NM_001021.3.
(upstream sequence)
. . g.4809
gtttcctcttttaccaaggacccgccaac c.-1
| 02 . . . . . . g.5162
ATG | GGCCGCGTTCGCACCAAAACCGTGAAGAAGGCGGCCCGGGTCATCATAGAAAAGTAC c.60
M | G R V R T K T V K K A A R V I I E K Y p.20
. . . . . . g.5222
TACACGCGCCTGGGCAACGACTTCCACACGAACAAGCGCGTGTGCGAGGAGATCGCCATT c.120
Y T R L G N D F H T N K R V C E E I A I p.40
. . . | 03 . . . g.6277
ATCCCCAGCAAAAAGCTCCGCAACAAGATAGCAGG | TTATGTCACGCATCTGATGAAGCGA c.180
I P S K K L R N K I A G | Y V T H L M K R p.60
. . . . . . g.6337
ATTCAGAGAGGCCCAGTAAGAGGTATCTCCATCAAGCTGCAGGAGGAGGAGAGAGAAAGG c.240
I Q R G P V R G I S I K L Q E E E R E R p.80
. . | 04 . . . . g.6905
AGAGACAATTATGTTCCTGAG | GTCTCAGCCTTGGATCAGGAGATTATTGAAGTAGATCCT c.300
R D N Y V P E | V S A L D Q E I I E V D P p.100
. . | 05. . . . g.8389
GACACTAAGGAAATGCTGAAGCTTTTG | GACTTCGGCAGTCTGTCCAACCTTCAGGTCACT c.360
D T K E M L K L L | D F G S L S N L Q V T p.120
. . . . g.8437
CAGCCTACAGTTGGGATGAATTTCAAAACGCCTCGGGGACCTGTTTGA c.408
Q P T V G M N F K T P R G P V X p.135
. . . . g.8485
attttttctgtagtgctgtattattttcaataaatctgggacaacagc c.*48
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 26
©2004-2021 Leiden University Medical Center