SWISSVAR
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1 protein found in SwissVar (31 variants)

with gene/protein name P13637

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)
P13637 AT1A3_HUMAN dystonia 12 p.Ile274Thr
p.Glu277Lys
p.Thr613Met
p.Ile758Ser
p.Phe780Leu
p.Asp801Tyr
p.Asp923Asn







P13637 AT1A3_HUMAN alternating hemiplegia of childhood 2 p.Ser137Phe
p.Ser137Tyr
p.Gln140Leu
p.Asp220Asn
p.Ile274Asn
p.Val322Asp
p.Cys333Phe
p.Leu371Pro
p.Gly755Ser
p.Gly755Cys
p.Ser772Arg
p.Asn773Ile
p.Asn773Ser
p.Asp801Asn
p.Met806Arg
p.Ile810Ser
p.Ser811Pro
p.Glu815Lys
p.Asp923Tyr
p.Cys927Tyr
p.Gly947Arg
p.Ala955Asp
p.Asp992Tyr























P13637 AT1A3_HUMAN cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss p.Glu818Lys