SWISSVAR
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1 protein found in SwissVar (10 variants)

with gene/protein name P28329

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)
P28329 CLAT_HUMAN myasthenic syndrome, congenital, 6, presynaptic p.Leu210Pro
p.Pro211Ala
p.Ile305Thr
p.Ile336Thr
p.Arg420Cys
p.Glu441Lys
p.Arg482Gly
p.Ser498Leu
p.Val506Leu
p.Arg560His
2FY2A (92)
2FY3A (93)
2FY2A (187)
2FY2A (218)
2FY4A (302)
2FY2A (323)
2FY2A (364)
2FY3A (380)
2FY5A (386)
2FY2A (442)