SWISSVAR

1 protein found in SwissVar (37 variants)

with gene/protein name Q04656

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)
Q04656 ATP7A_HUMAN menkes disease p.Ala629Pro
p.Leu706Arg
p.Gly727Arg
p.Arg844His
p.Gly853Arg
p.Gly860Val
p.Leu873Arg
p.Gly876Arg
p.Gly876Glu
p.Gln924Arg
p.Cys1000Arg
p.Leu1006Pro
p.Ala1007Val
p.Gly1015Asp
p.Gly1019Asp
p.Asp1044Gly
p.Thr1048Ile
p.Leu1100Pro
p.Gly1118Asp
p.Gly1255Arg
p.Lys1282Glu
p.Gly1300Glu
p.Gly1302Val
p.Gly1302Arg
p.Asn1304Lys
p.Asp1305Ala
p.Gly1315Arg
p.Ala1325Val
p.Ser1344Arg
p.Ile1345Phe
p.Ala1362Val
p.Gly1369Arg
p.Ser1397Phe

































Q04656 ATP7A_HUMAN occipital horn syndrome p.Ser637Leu
p.Asn1304Ser


Q04656 ATP7A_HUMAN distal spinal muscular atrophy, x-linked, 3 p.Thr994Ile
p.Pro1386Ser