Annotation Detail
Information
- Associated Genes
- PAH
- Associated Variants
-
PAH p.Ala395Pro (p.A395P)
(
ENST00000553106.6,
ENST00000307000.7 )
PAH p.Arg261Pro (p.R261P) ( ENST00000307000.7, ENST00000553106.6 )
PAH p.Arg261Gln (p.R261Q) ( ENST00000553106.6, ENST00000307000.7 )
PAH p.Ala395Pro (p.A395P) ( ENST00000307000.7, ENST00000553106.6 )
PAH p.Arg261Pro (p.R261P) ( ENST00000307000.7, ENST00000553106.6 )
PAH p.Arg261Gln (p.R261Q) ( ENST00000307000.7, ENST00000553106.6 ) - Associated Disease
- Phenylketonurias
- Source Database
- DisGeNET
- Description
- We report two new patients with tetrahydrobiopterin (BH4)-responsive phenylketonuria and compare their phenylalanine hydroxylase (PAH) genotypes (A395P/ IVS12+g>a and R261Q/165T, respectively) to those of previous cases from the literature.
- Pubmed
- 11999982
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.374728566641762
- Year of publication
- 2002
Drugs