GLA c.338T>C ;(p.F113S)

Variant ID: X-100658830-A-G

NM_000169.2(GLA):c.338T>C;(p.F113S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: GLA: F113S
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Fabry disease in a Japanese population-molecular and biochemical characteristics.

Molecular Genetics And Metabolism Reports
Sakuraba, Hitoshi H; Tsukimura, Takahiro T; Togawa, Tadayasu T; Tanaka, Toshie T; Ohtsuka, Tomoko T; Sato, Atsuko A; Shiga, Tomoko T; Saito, Seiji S; Ohno, Kazuki K
Publication Date: 2018-12

Variant appearance in text: GLA: 338T>C; F113S
PubMed Link: 30386727
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: GLA: F113S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

Plos One
Saito, Seiji S; Ohno, Kazuki K; Sakuraba, Hitoshi H
Publication Date: 2013

Variant appearance in text: GLA: F113S
PubMed Link: 24386359
Variant Present in the following documents:
  • Main text
  • pone.0084267.pdf
View BVdb publication page



A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.

Human Mutation
Wu, Xiaoyang X; Katz, Evan E; Della Valle, Maria Cecilia MC; Mascioli, Kirsten K; Flanagan, John J JJ; Castelli, Jeffrey P JP; Schiffmann, Raphael R; Boudes, Pol P; Lockhart, David J DJ; Valenzano, Kenneth J KJ; Benjamin, Elfrida R ER
Publication Date: 2011-08

Variant appearance in text: GLA: 338T>C; F113S
PubMed Link: 21598360
Variant Present in the following documents:
  • Main text
  • humu0032-0965.pdf
View BVdb publication page