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LCA5 (NM_181714) - lebercilin LCA5
Lebercilin
Legend
Mutation impacts
direct
network-rewiring
motif-changing
proximal
distal
none
Sites
multiple types
acetylation
methylation
succinylation
sumoylation
ubiquitination
glycosylation
- C-linked
- N-linked
- O-linked
- S-linked
phosphorylation
- SARS-CoV-2
Others
Exact position of a PTM site
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Mutations Visualisation
Protein summary
This is preferred isoform of LCA5 protein.
View all 2 isoforms
LCA5:
lebercilin
Description:
This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009].
- Strand
- -
- Chromosome
- 6
- Protein
- 697 residues
- All mutations
- 148
- PTM sites
- 6
- CDS
- 80,196,720 - 80,228,611
- Transcription
- 80,194,707 - 80,247,147
External references
Mappings retrieved from NCBI & UniProt.