PAH c.412_413delinsGC ;(p.Y138A)

Variant ID: 12-103271268-TA-GC

NM_000277.1(PAH):c.412_413delinsGC;(p.Y138A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: Y138A
PubMed Link: 28680815
Variant Present in the following documents:
  • Main text
  • FEB4-7-1026.pdf
View BVdb publication page