Annotation Detail
Information
- Associated Genes
- PAH
- Associated Variants
-
PAH p.Ile65Ser (p.I65S)
(
ENST00000553106.6,
ENST00000307000.7 )
PAH p.Ile65Thr (p.I65T) ( ENST00000553106.6, ENST00000307000.7 )
PAH p.Ile65Asn (p.I65N) ( ENST00000553106.6, ENST00000307000.7 )
PAH p.Leu48Ser (p.L48S) ( ENST00000307000.7, ENST00000553106.6 )
PAH p.Phe39Leu (p.F39L) ( ENST00000553106.6, ENST00000307000.7 )
PAH p.Ile65Ser (p.I65S) ( ENST00000307000.7, ENST00000553106.6 )
PAH p.Ile65Thr (p.I65T) ( ENST00000307000.7, ENST00000553106.6 )
PAH p.Ile65Asn (p.I65N) ( ENST00000307000.7, ENST00000553106.6 )
PAH p.Leu48Ser (p.L48S) ( ENST00000307000.7, ENST00000553106.6 )
PAH p.Phe39Leu (p.F39L) ( ENST00000307000.7, ENST00000553106.6 ) - Associated Disease
- Hyperphenylalaninaemia
- Source Database
- DisGeNET
- Description
- The F39L, L48S, and I65T PAH mutations were selected because each is associated with a spectrum of in vivo HPA among patients.
- Pubmed
- 10720436
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.152421134909395
- Year of publication
- 2000
Drugs