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1 protein found in SwissVar (30 variants)

with gene/protein name P35556

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)
P35556 FBN2_HUMAN arthrogryposis, distal, 9 p.Glu391Lys
p.Gly754Ser
p.Gly1057Asp
p.Asn1091Ser
p.Ile1093Thr
p.Asp1115His
p.Ser1122Pro
p.Cys1142Phe
p.Cys1142Arg
p.Tyr1146Cys
p.Cys1156Phe
p.Glu1161Lys
p.Gly1179Cys
p.Cys1198Tyr
p.Cys1240Arg
p.Cys1246Phe
p.Cys1253Tyr
p.Cys1253Trp
p.Cys1257Arg
p.Cys1257Trp
p.Asn1259Lys
p.Cys1268Arg
p.Cys1384Tyr
p.Cys1384Phe
p.Cys1406Arg
p.Asp1408Asn
p.Cys1425Arg
p.Cys1434Ser




























P35556 FBN2_HUMAN macular degeneration, early-onset p.Glu1144Lys
p.Met1247Thr