Results for the protein: O60931

Results for the Protein: O60931

269849555

1497

CTNS

NCBI, UniProt

CTNS_HUMAN RecName: Full=Cystinosin

Known Diseases associated with this Protein:
  CYSTINOSIS, ADULT, NON-NEPHROPATHIC TYPE (CTNSANN)
  CYSTINOSIS, ATYPICAL NEPHROPATHIC
  CYSTINOSIS, ATYPICAL NEPHROPATHIC, INCLUDED
  CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
  CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE (CTNSJAN)
  CYSTINOSIS, NEPHROPATHIC
  CYSTINOSIS, NEPHROPATHIC TYPE (CTNS)
  CYSTINOSIS, OCULAR NONNEPHROPATHIC

39

3

9

2

31

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Default View: PQ-loop - pfam04193 CTNS - smart00679	Swiss-Prot Protein: O60931 Identical to: NP_004928 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PQ-loop	pfam04193	2.2e-18	265	325
CTNS	smart00679	7.1e-14	140	171
CTNS	smart00679	7.5e-09	279	310

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_067490	Disease	p.ARG151GLY	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_037322	Disease	p.ASN288LYS	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_010288	Disease	p.ASN323LYS	Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN)
Swiss-Prot	VAR_067493	Disease	p.ASN177SER	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_037319	Disease	p.ASN177THR	Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN)
Swiss-Prot	VAR_010683	Disease	p.ASP205ASN	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_010698	Disease	p.ASP346ASN	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_010690	Disease	p.ASP305GLY	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_010691	Disease	p.ASP305TYR	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_037321	Disease	p.GLN222ARG	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_010682	Disease	p.GLY197ARG	Cystinosis, adult, non-nephropathic type (CTNSANN)
Swiss-Prot	VAR_010692	Disease	p.GLY308ARG	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_067497	Disease	p.GLY337ARG	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_010695	Disease	p.GLY339ARG	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_067491	Disease	p.GLY157ASP	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_010286	Disease	p.GLY169ASP	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_067496	Disease	p.GLY309ASP	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_037318	Disease	p.GLY110VAL	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_067495	Disease	p.GLY308VAL	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_010677	Disease	p.ILE133PHE	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_067498	Disease	p.LEU338ARG	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_010680	Disease	p.LEU158PRO	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_010694	Disease	p.LEU338PRO	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_010287	Disease	p.LYS280ARG	Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN)
Swiss-Prot	VAR_012314	Polymorphism	p.LYS292ARG	N/A
Swiss-Prot	VAR_067494	Disease	p.MET287ILE	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_037320	Disease	p.PRO200LEU	Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN)
Swiss-Prot	VAR_012315	Disease	p.SER298ASN	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_010678	Disease	p.SER139PHE	Cystinosis, nephropathic type (CTNS)
dbSNP	rs161400	Polymorphism	p.THR260ILE	N/A
Swiss-Prot	VAR_010681	Disease	p.TRP182ARG	Cystinosis, nephropathic type (CTNS)
Swiss-Prot	VAR_067492	Disease	p.TYR173CYS	Cystinosis, nephropathic type (CTNS)
dbSNP	rs35086888	Polymorphism	p.VAL42ILE	N/A
OMIM	606272.0016	Disease	p.ASN323LYS	CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
OMIM	606272.0011	Disease	p.GLY197ARG	CYSTINOSIS, OCULAR NONNEPHROPATHIC
OMIM	606272.0015	Disease	p.GLY339ARG	CYSTINOSIS, NEPHROPATHIC
OMIM	606272.0006	Disease	p.GLY169ASP	CYSTINOSIS, NEPHROPATHIC
OMIM	606272.0001	Disease	p.GLY95TER	CYSTINOSIS, NEPHROPATHIC
OMIM	606272.0017	Disease	p.GLY110VAL	CYSTINOSIS, ATYPICAL NEPHROPATHIC
OMIM	606272.0018	Disease	p.SER139PHE	CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE\|\|CYSTINOSIS, ATYPICAL NEPHROPATHIC, INCLUDED
OMIM	606272.0003	Disease	p.TRP138TER	CYSTINOSIS, NEPHROPATHIC
OMIM	606272.0007	Disease	p.VAL42ILE	CYSTINOSIS, ATYPICAL NEPHROPATHIC

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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