SWISSVAR
To improve security and privacy, we are moving our web pages and services from HTTP to HTTPS.
To give users of web services time to transition to HTTPS, we will support separate HTTP and HTTPS services until the end of 2017.
From January 2018 most HTTP traffic will be automatically redirected to HTTPS. [more...]
View this page in https

1 protein found in SwissVar (24 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 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