PAH c.413A>T ;(p.Y138F)

Variant ID: 12-103271268-T-A

NM_000277.1(PAH):c.413A>T;(p.Y138F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Structure of full-length human phenylalanine hydroxylase in complex with tetrahydrobiopterin.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Flydal, Marte Innselset MI; Alcorlo-Pagés, Martín M; Johannessen, Fredrik Gullaksen FG; Martínez-Caballero, Siseth S; Skjærven, Lars L; Fernandez-Leiro, Rafael R; Martinez, Aurora A; Hermoso, Juan A JA
Publication Date: 2019-06-04

Variant appearance in text: PAH: Y138F
PubMed Link: 31118288
Variant Present in the following documents:
  • Main text
View BVdb publication page



Substituting Tyr138 in the active site loop of human phenylalanine hydroxylase affects catalysis and substrate activation.

Febs Open Bio
Leandro, João J; Stokka, Anne J AJ; Teigen, Knut K; Andersen, Ole A OA; Flatmark, Torgeir T
Publication Date: 2017-07

Variant appearance in text: PAH: Y138F
PubMed Link: 28680815
Variant Present in the following documents:
  • Main text
  • FEB4-7-1026.pdf
View BVdb publication page