SWISSVAR

1 protein found in SwissVar (34 variants)

with gene/protein name Q15582

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)
Q15582 BGH3_HUMAN p.Ile200Phe
p.Leu269Phe
p.Arg496Gly
p.Asn544Ser
p.Asn622His
p.Val631Asp






Q15582 BGH3_HUMAN lattice corneal dystrophy p.Val539Asp
p.Gly594Val


Q15582 BGH3_HUMAN granular corneal dystrophy p.Val113Ile
p.Asp123His


Q15582 BGH3_HUMAN corneal dystrophy, epithelial basement membrane p.Leu509Arg
p.Arg666Ser


Q15582 BGH3_HUMAN corneal dystrophy, groenouw type 1 p.Arg124Ser
p.Arg555Trp


Q15582 BGH3_HUMAN corneal dystrophy, lattice type 1 p.Arg124Cys
p.Val505Asp
p.Leu518Arg
p.Leu518Pro
p.Leu527Arg
p.Thr538Arg
p.Ala546Asp
p.Pro551Gln
p.Leu569Arg
p.His572Arg
p.Gly623Asp
p.His626Arg
p.His626Pro













Q15582 BGH3_HUMAN corneal dystrophy, thiel-behnke type p.Arg555Gln

Q15582 BGH3_HUMAN corneal dystrophy, reis-bucklers type p.Arg124Leu

Q15582 BGH3_HUMAN corneal dystrophy, lattice type 3a p.Pro501Thr
p.Phe540Ser
p.Ala546Thr
p.Asn622Lys




Q15582 BGH3_HUMAN corneal dystrophy, avellino type p.Arg124His