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This service is no longer maintained and will be discontinued as of UniProtKB release 2020_04 of August 12th, 2020.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 (19 variants)

with gene/protein name Q9ULP9

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)
Q9ULP9 TBC24_HUMAN familial infantile myoclonic epilepsy p.Asp147His
p.Phe251Leu
p.Ala515Val



Q9ULP9 TBC24_HUMAN epileptic encephalopathy, early infantile, 16 p.Ala113Asp
p.Leu159Pro
p.Phe229Ser



Q9ULP9 TBC24_HUMAN deafness, autosomal dominant, 65 p.Ser178Leu

Q9ULP9 TBC24_HUMAN deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome p.Gln20Glu
p.Arg40Cys
p.Gly110Ser
p.Arg242Cys
p.Leu333Phe





Q9ULP9 TBC24_HUMAN deafness, autosomal recessive, 86 p.Asp70Tyr
p.Arg293Pro


Q9ULP9 TBC24_HUMAN epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp p.Thr182Met
p.Arg360His
p.Ala500Val
p.Gly501Arg
p.Gly511Arg