Annotation Detail
Information
- Associated Genes
- ELN
- Associated Variants
-
GLB1 p.Tyr591Cys (p.Y591C)
(
ENST00000307363.10,
ENST00000307377.12,
ENST00000399402.7 )
GLB1 p.Tyr591His (p.Y591H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Tyr591Asn (p.Y591N) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg482His (p.R482H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg201His (p.R201H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg59His (p.R59H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
ELN p.Gly678Asp (p.G678D) ( ENST00000252034.12, ENST00000320399.10, ENST00000320492.11, ENST00000357036.9, ENST00000380553.8, ENST00000380562.8, ENST00000380575.8, ENST00000380576.9, ENST00000380584.8, ENST00000414324.5, ENST00000429192.5, ENST00000445912.5, ENST00000458204.5, ENST00000621115.4, ENST00000692049.1 )
GLB1 p.Tyr591Cys (p.Y591C) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Tyr591His (p.Y591H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Tyr591Asn (p.Y591N) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg482His (p.R482H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg201His (p.R201H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg59His (p.R59H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
ELN p.Gly678Asp (p.G678D) ( ENST00000252034.12, ENST00000320399.10, ENST00000320492.11, ENST00000357036.9, ENST00000380553.8, ENST00000380562.8, ENST00000380575.8, ENST00000380576.9, ENST00000380584.8, ENST00000414324.5, ENST00000429192.5, ENST00000445912.5, ENST00000458204.5, ENST00000621115.4, ENST00000692049.1 ) - Associated Disease
- congenital heart defects
- Source Database
- DisGeNET
- Description
- Interestingly, all patients with cardiac involvement were homozygous for one of these mutations: R59H, Y591C, Y591N, or IVS14-2A>G. In contrast, all other patients were compound heterozygous for one of the following mutations: R201H, R482H, G579D, IVS8+2T>C. Although we could not directly correlate the presence of cardiac abnormalities with specific genetic lesions, the mutations identified in patients with cardiomyopathy fell in the GLB1 cDNA region common to the lysosomal enzyme and the Hbeta-Gal-related protein, also known as the elastin binding protein (EBP).
- Pubmed
- 10737981
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2000
Drugs