Results for the protein: O15537

Results for the Protein: O15537

6686080

6247

RS1

NCBI, UniProt

XLRS1_HUMAN RecName: Full=Retinoschisin; AltName: Full=X-linked juvenile retinoschisis protein; Flags: Precursor

Known Diseases associated with this Protein:
RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS JUVENILE X-LINKED 1 (XLRS1)

74

2

10

0

66

Tips:

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Default View: FA58C - smart00231	Swiss-Prot Protein: O15537 Identical to: NP_000321 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_008216	Disease	p.ALA98GLU	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008231	Disease	p.ARG141CYS	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008242	Disease	p.ARG182CYS	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008247	Disease	p.ARG197CYS	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008251	Disease	p.ARG200CYS	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_065330	Disease	p.ARG209CYS	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008217	Disease	p.ARG102GLN	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_065331	Disease	p.ARG213GLN	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008232	Disease	p.ARG141GLY	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_065328	Disease	p.ARG156GLY	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008233	Disease	p.ARG141HIS	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008248	Disease	p.ARG197HIS	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008252	Disease	p.ARG200HIS	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008255	Disease	p.ARG209HIS	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008184	Disease	p.ARG102TRP	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008256	Disease	p.ARG213TRP	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008239	Polymorphism	p.ASP158ASN	N/A
Swiss-Prot	VAR_065327	Disease	p.ASP145HIS	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008235	Disease	p.ASP143VAL	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008261	Disease	p.CYS219ARG	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008262	Disease	p.CYS223ARG	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008260	Disease	p.CYS219GLY	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008211	Disease	p.CYS59SER	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008234	Disease	p.CYS142TRP	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008222	Disease	p.CYS110TYR	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008236	Disease	p.GLU146ASP	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008180	Disease	p.GLU72ASP	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008258	Disease	p.GLU215GLN	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008237	Disease	p.GLU146LYS	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008257	Disease	p.GLU215LYS	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008181	Disease	p.GLU72LYS	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008213	Disease	p.GLY70ALA	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008185	Disease	p.GLY109ARG	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008230	Disease	p.GLY140ARG	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008241	Disease	p.GLY178ASP	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008220	Disease	p.GLY109GLU	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008229	Disease	p.GLY140GLU	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008214	Disease	p.GLY70SER	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008221	Disease	p.GLY109TRP	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008226	Disease	p.GLY135VAL	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008182	Disease	p.GLY74VAL	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008254	Disease	p.HIS207GLN	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008227	Disease	p.ILE136THR	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008249	Disease	p.ILE199THR	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008218	Disease	p.LEU103ARG	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008209	Disease	p.LEU12HIS	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008224	Disease	p.LEU113PHE	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008225	Disease	p.LEU127PRO	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008210	Disease	p.LEU13PRO	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008259	Disease	p.LEU216PRO	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_012078	Polymorphism	p.LYS222ASN	N/A
Swiss-Prot	VAR_008219	Disease	p.PHE108CYS	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008243	Disease	p.PRO192ARG	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_065329	Disease	p.PRO192LEU	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008245	Disease	p.PRO193LEU	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008253	Disease	p.PRO203LEU	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008244	Disease	p.PRO192SER	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008246	Disease	p.PRO193SER	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_065326	Disease	p.SER73PRO	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008228	Disease	p.THR138ALA	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008183	Disease	p.TRP96ARG	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008223	Disease	p.TRP112CYS	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008240	Disease	p.TRP163CYS	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008238	Disease	p.TYR155CYS	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008212	Disease	p.TYR65CYS	Retinoschisis juvenile X-linked 1 (XLRS1)
Swiss-Prot	VAR_008215	Disease	p.TYR89CYS	Retinoschisis juvenile X-linked 1 (XLRS1)
OMIM	300839.0011	Disease	p.ARG102GLN	RETINOSCHISIS 1, X-LINKED, JUVENILE
OMIM	300839.0002	Disease	p.ARG102TRP	RETINOSCHISIS 1, X-LINKED, JUVENILE
OMIM	300839.0008	Disease	p.CYS223ARG	RETINOSCHISIS 1, X-LINKED, JUVENILE
OMIM	300839.0004	Disease	p.GLU72ASP	RETINOSCHISIS 1, X-LINKED, JUVENILE
OMIM	300839.0003	Disease	p.GLU72LYS	RETINOSCHISIS 1, X-LINKED, JUVENILE
OMIM	300839.0006	Disease	p.GLY109ARG	RETINOSCHISIS 1, X-LINKED, JUVENILE
OMIM	300839.0005	Disease	p.GLY74VAL	RETINOSCHISIS 1, X-LINKED, JUVENILE
OMIM	300839.0007	Disease	p.LEU13PRO	RETINOSCHISIS 1, X-LINKED, JUVENILE
OMIM	300839.0010	Disease	p.PRO203LEU	RETINOSCHISIS 1, X-LINKED, JUVENILE
OMIM	300839.0001	Disease	p.TRP96ARG	RETINOSCHISIS 1, X-LINKED, JUVENILE

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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