SWISSVAR
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1 protein found in SwissVar (30 variants)

with gene/protein name O60931

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)
O60931 CTNS_HUMAN cystinosis, nephropathic type p.Gly110Val
p.Ile133Phe
p.Ser139Phe
p.Arg151Gly
p.Gly157Asp
p.Leu158Pro
p.Gly169Asp
p.Tyr173Cys
p.Asn177Ser
p.Trp182Arg
p.Asp205Asn
p.Gln222Arg
p.Met287Ile
p.Asn288Lys
p.Ser298Asn
p.Asp305Tyr
p.Asp305Gly
p.Gly308Val
p.Gly308Arg
p.Gly309Asp
p.Gly337Arg
p.Leu338Arg
p.Leu338Pro
p.Gly339Arg
p.Asp346Asn

























O60931 CTNS_HUMAN cystinosis, adult, non-nephropathic type p.Gly197Arg

O60931 CTNS_HUMAN cystinosis, late-onset juvenile or adolescent nephropathic type p.Asn177Thr
p.Pro200Leu
p.Lys280Arg
p.Asn323Lys