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.Asp305Gly p.Asp305Tyr 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 |
|