Results for the protein: P10745

Results for the Protein: P10745

124894

5949

RBP3

NCBI, UniProt

RET3_HUMAN RecName: Full=Retinol-binding protein 3; AltName: Full=Interphotoreceptor retinoid-binding protein; Short=IRBP; AltName: Full=Interstitial retinol-binding protein; Flags: Precursor

Known Diseases associated with this Protein:
RETINITIS PIGMENTOSA 66 (1 FAMILY)
RETINITIS PIGMENTOSA 66 (RP66)

2

40

1

1

40

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

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To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: Peptidase_S41_IRBP - cd07563 Peptidase_S41 - cd06567 DUF3436 - pfam11918 TSPc - smart00245 Peptidase_S41 - pfam03572 Peptidase_S41_TRI - cd07562 Prc - COG0793	Swiss-Prot Protein: P10745 Identical to: NP_002891 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Peptidase_S41	cd06567	1.3e-25	28	308
Peptidase_S41_TRI	cd07562	5.3e-08	308	631
Peptidase_S41_IRBP	cd07563	5.5e-92	329	626
Peptidase_S41	cd06567	1.1e-20	337	619
Prc	COG0793	1.2e-05	553	962
Peptidase_S41_IRBP	cd07563	1.8e-108	639	927
Peptidase_S41	cd06567	6.7e-29	640	919
Peptidase_S41_IRBP	cd07563	1.6e-110	940	1226
Peptidase_S41	cd06567	5.2e-35	954	1218
Peptidase_S41	pfam03572	7.6e-42	129	307
Peptidase_S41	pfam03572	6.4e-42	438	617
Peptidase_S41	pfam03572	1.4e-41	742	918
Peptidase_S41	pfam03572	1.1e-47	1041	1217
DUF3436	pfam11918	4.6e-31	71	125
TSPc	smart00245	1.1e-60	109	308
TSPc	smart00245	5.3e-64	414	618
TSPc	smart00245	1.8e-69	722	919
TSPc	smart00245	2.6e-63	1021	1218

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_069677	Polymorphism	p.ALA325THR	N/A
Swiss-Prot	VAR_069679	Polymorphism	p.ALA379THR	N/A
Swiss-Prot	VAR_069690	Polymorphism	p.ALA615VAL	N/A
Swiss-Prot	VAR_069692	Polymorphism	p.ALA688VAL	N/A
Swiss-Prot	VAR_069685	Polymorphism	p.ARG535CYS	N/A
Swiss-Prot	VAR_069696	Polymorphism	p.ARG747CYS	N/A
Swiss-Prot	VAR_069698	Polymorphism	p.ARG833CYS	N/A
Swiss-Prot	VAR_069674	Polymorphism	p.ARG267GLN	N/A
Swiss-Prot	VAR_069670	Polymorphism	p.ARG122HIS	N/A
Swiss-Prot	VAR_069678	Polymorphism	p.ARG346HIS	N/A
Swiss-Prot	VAR_035929	Polymorphism	p.ARG530HIS	N/A
Swiss-Prot	VAR_069686	Polymorphism	p.ARG544HIS	N/A
Swiss-Prot	VAR_069681	Polymorphism	p.ARG443SER	N/A
Swiss-Prot	VAR_069697	Polymorphism	p.ASN785LYS	N/A
Swiss-Prot	VAR_069706	Disease	p.ASP1080ASN	Retinitis pigmentosa 66 (RP66)
Swiss-Prot	VAR_069689	Polymorphism	p.ASP614ASN	N/A
Swiss-Prot	VAR_069683	Polymorphism	p.GLN518ARG	N/A
Swiss-Prot	VAR_069702	Polymorphism	p.GLU956LYS	N/A
Swiss-Prot	VAR_069695	Polymorphism	p.GLY741SER	N/A
Swiss-Prot	VAR_069699	Polymorphism	p.GLY835SER	N/A
Swiss-Prot	VAR_069669	Polymorphism	p.GLY18VAL	N/A
Swiss-Prot	VAR_069684	Polymorphism	p.HIS523GLN	N/A
Swiss-Prot	VAR_069682	Polymorphism	p.HIS505LEU	N/A
Swiss-Prot	VAR_069688	Polymorphism	p.ILE599VAL	N/A
Swiss-Prot	VAR_069694	Polymorphism	p.PRO723LEU	N/A
Swiss-Prot	VAR_069701	Polymorphism	p.SER921ARG	N/A
Swiss-Prot	VAR_069680	Polymorphism	p.SER433LEU	N/A
Swiss-Prot	VAR_069672	Polymorphism	p.SER163PRO	N/A
Swiss-Prot	VAR_069704	Polymorphism	p.SER1021TYR	N/A
Swiss-Prot	VAR_069700	Polymorphism	p.THR903ARG	N/A
Swiss-Prot	VAR_069676	Polymorphism	p.THR321ILE	N/A
Swiss-Prot	VAR_069691	Polymorphism	p.THR675ILE	N/A
Swiss-Prot	VAR_069703	Polymorphism	p.THR963ILE	N/A
Swiss-Prot	VAR_069707	Polymorphism	p.THR1194MET	N/A
Swiss-Prot	VAR_069687	Polymorphism	p.VAL593ALA	N/A
Swiss-Prot	VAR_069705	Polymorphism	p.VAL1059ILE	N/A
Swiss-Prot	VAR_069671	Polymorphism	p.VAL155MET	N/A
Swiss-Prot	VAR_069673	Polymorphism	p.VAL196MET	N/A
Swiss-Prot	VAR_069675	Polymorphism	p.VAL282MET	N/A
Swiss-Prot	VAR_069693	Polymorphism	p.VAL693MET	N/A
dbSNP	rs11204213	Polymorphism	p.VAL884MET	N/A
OMIM	180290.0001	Disease	p.ASP1080ASN	RETINITIS PIGMENTOSA 66 (1 family)

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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