SWISSVAR
Home  |  Contact
This service is no longer maintained and will be discontinued as of UniProtKB release 2020_04 of August 12th, 2020. Much of the data in SwissVar is available via the UniProt Knowledgebase. Please don't hesitate to contact the UniProt helpdesk in case of questions.

1 protein found in SwissVar (13 variants)

with gene/protein name Q15526

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
Q15526 SURF1_HUMAN leigh syndrome p.Ala56Gly
p.Leu90Pro
p.Gly124Arg
p.Gly124Glu
p.Val177Gly
p.Gly205Glu
p.Trp227Arg
p.Met235Thr
p.Ile246Thr
p.Ala248Asp
p.Gly257Arg
p.Tyr274Asp












Q15526 SURF1_HUMAN charcot-marie-tooth disease 4k p.Arg192Trp