Results for the protein: NP

Results for the Protein: NP_000313

118572596

5961

PRPH2

NCBI

peripherin-2 [Homo sapiens]

Known Diseases associated with this Protein:
  CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
  FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH CHOROIDAL NEOVASCULARIZATION
  FUNDUS FLAVIMACULATUS
  MACULAR DYSTROPHY, PATTERNED
  RETINITIS PIGMENTOSA 7
  RETINITIS PIGMENTOSA 7, DIGENIC
  RETINITIS PIGMENTOSA 7, WITH BULL'S-EYE MACULOPATHY
  VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET

13

3

13

3

0

Tips:

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

Clicking a check box will display or hide the correlated domain.

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

Default View: Tetraspannin - pfam00335 CD63_LEL - cd03166 NET-5_like_LEL - cd03165 peripherin_like_LEL - cd03162 CD151_like_LEL - cd03155 penumbra_like_LEL - cd03158 tetraspanin_LEL - cd03127	RefSeq Protein: NP_000313 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CD151_like_LEL	cd03155	1.5e-08	120	261
penumbra_like_LEL	cd03158	0.00023	120	262
peripherin_like_LEL	cd03162	1.5e-111	120	262
NET-5_like_LEL	cd03165	6.1e-05	120	204
CD63_LEL	cd03166	0.00091	120	200
Tetraspannin	pfam00335	1.8e-48	10	290

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs425876	Polymorphism	p.ARG310LYS	N/A
dbSNP	rs434102	Polymorphism	p.ASP338VAL	N/A
dbSNP	rs390659	Polymorphism	p.GLN304GLU	N/A
OMIM	179605.0006	Disease	p.ARG172GLN	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
OMIM	179605.0021	Disease	p.ARG1LEU	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
OMIM	179605.0018	Disease	p.ARG46TER	FUNDUS FLAVIMACULATUS
OMIM	179605.0022	Disease	p.ARG142TRP	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
OMIM	179605.0007	Disease	p.ARG172TRP	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
OMIM	179605.0011	Disease	p.ASN244LYS	RETINITIS PIGMENTOSA 7, WITH BULL'S-EYE MACULOPATHY
OMIM	179605.0020	Disease	p.ASP173VAL	RETINITIS PIGMENTOSA 7
OMIM	179605.0009	Disease	p.GLY167ASP	MACULAR DYSTROPHY, PATTERNED
OMIM	179605.0004	Disease	p.LEU185PRO	RETINITIS PIGMENTOSA 7, DIGENIC
OMIM	179605.0012	Disease	p.PRO210ARG	FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH CHOROIDAL NEOVASCULARIZATION
OMIM	179605.0003	Disease	p.PRO216LEU	RETINITIS PIGMENTOSA 7
OMIM	179605.0015	Disease	p.TRP316TER	VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET
OMIM	179605.0008	Disease	p.TYR258TER	VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET

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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