Annotation Detail
Information
- Associated Genes
- GALT
- Associated Variants
-
GALT p.Gln188Arg (p.Q188R)
(
ENST00000378842.8,
ENST00000450095.6 )
GALT p.Asn314Asp (p.N314D) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Gln188Arg (p.Q188R) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Asn314Asp (p.N314D) ( ENST00000378842.8, ENST00000450095.6 ) - Associated Disease
- Classical galactosemia
- Source Database
- DisGeNET
- Description
- In silico analysis (SIFT, PolyPhen-2 and the computational analysis on the static protein structure) showed potentially damaging effects of the six new variations on the GALT protein, thus expanding the genetic spectrum of GALT variations in Italy.
- Pubmed
- 25592817
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.375200744836497
- Year of publication
- 2015
Drugs