PAH c.125A>T ;(p.K42I)

Variant ID: 12-103306612-T-A

NM_000277.1(PAH):c.125A>T;(p.K42I)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Frontiers In Genetics
Wang, Ting T; Ma, Jun J; Zhang, Qin Q; Gao, Ang A; Wang, Qi Q; Li, Hong H; Xiang, Jingjing J; Wang, Benjing B
Publication Date: 2019

Variant appearance in text: PAH: 125A>T; K42I
PubMed Link: 31737040
Variant Present in the following documents:
  • Main text
  • fgene-10-01052.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: PAH: K42I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.

Proteins
Shi, Zhen Z; Sellers, Jenn J; Moult, John J
Publication Date: 2012-01

Variant appearance in text: PAH: K42I
PubMed Link: 21953985
Variant Present in the following documents:
  • Main text
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: K42I
PubMed Link: 17924342
Variant Present in the following documents:
  • Main text
View BVdb publication page