Annotation Detail
Information
- Associated Genes
- PAH
- Associated Variants
-
PAH p.Arg261Pro (p.R261P)
(
ENST00000307000.7,
ENST00000553106.6 )
PAH p.Arg261Gln (p.R261Q) ( ENST00000553106.6, ENST00000307000.7 )
PAH p.Pro211Thr (p.P211T) ( ENST00000553106.6, ENST00000307000.7 )
PAH p.Arg261Pro (p.R261P) ( ENST00000307000.7, ENST00000553106.6 )
PAH p.Arg261Gln (p.R261Q) ( ENST00000307000.7, ENST00000553106.6 )
PAH p.Pro211Thr (p.P211T) ( ENST00000307000.7, ENST00000553106.6 ) - Associated Disease
- Classical phenylketonuria
- Source Database
- DisGeNET
- Description
- In contrast, discordant metabolic phenotypes (mild PKU and MHP) were observed in two unrelated patients bearing the same R261Q/P211T genotype, a finding which underscores the complex relationship linking genotype to phenotype in PAH deficiency.
- Pubmed
- 11708866
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.388522903896075
- Year of publication
- 2001
Drugs