Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 p.Arg457Gln (p.R457Q)
(
ENST00000307377.12,
ENST00000399402.7,
ENST00000307363.10 )
GLB1 p.Ile51Thr (p.I51T) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg457Gln (p.R457Q) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Ile51Thr (p.I51T) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 ) - Associated Disease
- Gangliosidosis GM1
- Source Database
- DisGeNET
- Description
- The 51Ile----Thr mutant allele expressed a significant amount of beta-galactosidase activity, whereas the 457Arg----Gln mutant allele expressed extremely low activity in human GM1 gangliosidosis fibroblasts.
- Pubmed
- 1353343
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.149355448271329
- Year of publication
- 1992
Drugs