Annotation Detail
Information
- Associated Genes
- BBS1
- Associated Variants
-
BBS1 p.Met390Arg (p.M390R), ENSG00000256349 p.Met427Arg (p.M427R)
(
ENST00000393994.4,
ENST00000630659.2,
ENST00000318312.12,
ENST00000455748.6,
ENST00000526986.5 )
BBS1 p.Met390Arg (p.M390R), ENSG00000256349 p.Met427Arg (p.M427R) ( ENST00000318312.12, ENST00000393994.4, ENST00000455748.6, ENST00000630659.2, ENST00000526986.5 ) - Associated Disease
- Bardet-Biedl syndrome
- Source Database
- DisGeNET
- Description
- Furthermore, we show that BBS1 with the M390R mutation, responsible for 30% of all reported BBS disease cases, fails to interact with ARL6-GTP, thus providing a molecular rationale for patient pathologies.
- Pubmed
- 25402481
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.369238955172394
- Year of publication
- 2014
Drugs