SWISSVAR
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1 protein found in SwissVar (14 variants)

with gene/protein name Q05086

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)
Q05086 UBE3A_HUMAN angelman syndrome p.Thr129Lys
p.Asp235Val
p.Leu260His
p.Leu260Gln
p.Leu286Trp
p.Leu458Pro
p.Pro481Leu
p.Arg500Pro
p.Gly568Arg
p.Met589Lys
p.Glu607Gln
p.Thr679Ile
p.Phe713Cys
p.Pro850Leu