PAH c.559T>A ;(p.W187R)

Variant ID: 12-103249061-A-T

NM_000277.1(PAH):c.559T>A;(p.W187R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic variants associated with diseases in Afghan population.

Molecular Genetics & Genomic Medicine
Zadran, Suleman Khan SK; Ilyas, Muhammad M; Dawari, Shamsia S
Publication Date: 2021-05

Variant appearance in text: PAH: Trp187Arg
PubMed Link: 33486863
Variant Present in the following documents:
  • MGG3-9-e1608-s001.xlsx, sheet 1
View BVdb publication page



Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

American Journal Of Human Genetics
Pey, Angel L AL; Stricher, Francois F; Serrano, Luis L; Martinez, Aurora A
Publication Date: 2007-11

Variant appearance in text: PAH: W187R
PubMed Link: 17924342
Variant Present in the following documents:
  • Main text
View BVdb publication page