SWISSVAR
Home  |  Contact

1 protein found in SwissVar (43 variants)

with gene/protein name Q16678

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)
Q16678 CP1B1_HUMAN anterior segment dysgenesis 6
Q16678 CP1B1_HUMAN glaucoma 3, primary congenital, a p.Ser28Trp
p.Trp57Cys
p.Gly61Glu
p.Leu77Pro
p.Tyr81Asn
p.Ala115Pro
p.Met132Arg
p.Gln144Arg
p.Gln144Pro
p.Arg145Trp
p.Asp192Val
p.Pro193Leu
p.Val198Ile
p.Asn203Ser
p.Ser215Ile
p.Glu229Lys
p.Gly232Arg
p.Ser239Arg
p.Val320Leu
p.Ala330Phe
p.Leu345Phe
p.Val364Met
p.Gly365Trp
p.Arg368His
p.Asp374Asn
p.Glu387Lys
p.Ala388Thr
p.Arg390Cys
p.Arg390Ser
p.Arg390His
p.Ile399Ser
p.Val409Phe
p.Asn423Tyr
p.Pro437Leu
p.Ala443Gly
p.Arg444Gln
p.Phe445Cys
p.Gly466Asp
p.Arg469Trp
p.Glu499Gly
p.Ser515Leu
p.Arg523Thr
p.Asp530Gly











































Q16678 CP1B1_HUMAN glaucoma 1, open angle, a p.Arg368His