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.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 ) - Associated Disease
- Classical phenylketonuria
- Source Database
- DisGeNET
- Description
- To elucidate the molecular basis of functional impairment in PAH deficiency, we investigated the impact of ten PAH gene mutations identified in patients with BH(4)-responsiveness on enzyme kinetics, stability, and conformation of the protein (F55L, I65S, H170Q, P275L, A300S, S310Y, P314S, R408W, Y414C, Y417H).
- Pubmed
- 18538294
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.388522903896075
- Year of publication
- 2008
Drugs