SWISSVAR
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1 protein found in SwissVar (17 variants)

with gene/protein name Q99456

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)
Q99456 K1C12_HUMAN corneal dystrophy, meesmann p.Met129Thr
p.Met129Val
p.Gln130Pro
p.Leu132Pro
p.Arg135Ser
p.Arg135Thr
p.Arg135Gly
p.Arg135Ile
p.Ala137Pro
p.Leu140Arg
p.Leu140Gln
p.Val143Leu
p.Ile426Ser
p.Tyr429Cys
p.Tyr429Asp
p.Arg430Pro
p.Leu433Arg