Annotation Detail
Information
- Associated Genes
- PAH
- Associated Variants
-
PAH p.Arg408Trp (p.R408W)
(
ENST00000307000.7,
ENST00000553106.6 )
PAH p.Arg408Trp (p.R408W) ( ENST00000307000.7, ENST00000553106.6 ) - Associated Disease
- Phenylketonurias
- Source Database
- DisGeNET
- Description
- The PAH mutant proteins (R158Q, I174T and R408W) that result in the classical phenylketonuria (PKU) phenotype expressing 0.2-1.8% of the wild type PAH activity when using phenylalanine as substrate were found to have <0.1% of the wild type PAH activity when SCMC was used as the substrate.
- Pubmed
- 19036622
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.374728566641762
- Year of publication
- 2009
Drugs