Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 p.Arg148Cys (p.R148C)
(
ENST00000307363.10,
ENST00000307377.12,
ENST00000399402.7 )
GLB1 p.Arg148Ser (p.R148S) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg109Trp (p.R109W) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg68Trp (p.R68W) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
TMPPE p.Arg148Cys (p.R148C), GLB1 c.75+3257C>T ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7, ENST00000342462.5, ENST00000416695.6 )
TMPPE p.Arg148Ser (p.R148S), GLB1 c.75+3257C>A ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7, ENST00000342462.5, ENST00000416695.6 )
GLB1 p.Arg148Cys (p.R148C) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg148Ser (p.R148S) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg109Trp (p.R109W) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg68Trp (p.R68W) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
TMPPE p.Arg148Cys (p.R148C), GLB1 c.75+3257C>T ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7, ENST00000342462.5, ENST00000416695.6 )
TMPPE p.Arg148Ser (p.R148S), GLB1 c.75+3257C>A ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7, ENST00000342462.5, ENST00000416695.6 ) - Associated Disease
- Gangliosidosis, Generalized GM1, Type 1 (disorder)
- Source Database
- DisGeNET
- Description
- A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation.
- Pubmed
- 21497194
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.361900093104562
- Year of publication
- 2011
Drugs