SWISSVAR

1 protein found in SwissVar (10 variants)

with gene/protein name P49419

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)
P49419 AL7A1_HUMAN p.Thr412Ala
p.Lys439Gln


P49419 AL7A1_HUMAN pyridoxine-dependent epilepsy p.Ala199Val
p.Gly202Val
p.Gly291Glu
p.Asn301Ile
p.Arg335Gln
p.Val395Gly
p.Glu427Gln
p.Ser458Asn