Results for the protein: P23942

Results for the Protein: P23942

132212

5961

PRPH2

NCBI, UniProt

PRPH2_HUMAN RecName: Full=Peripherin-2; AltName: Full=Retinal degeneration slow protein; AltName: Full=Tetraspanin-22; Short=Tspan-22

Known Diseases associated with this Protein:
  ADULT-ONSET VITELLIFORM MACULAR DYSTROPHY (AVMD)
  CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 (CACD2)
  PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM (PDREP)
  RETINITIS PIGMENTOSA 7 (RP7)

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10

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40

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Default View:	Swiss-Prot Protein: P23942 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_006867	Polymorphism	p.ARG172GLN	N/A
Swiss-Prot	VAR_006885	Disease	p.ARG220GLN	Patterned dystrophy of retinal pigment epithelium (PDREP)
Swiss-Prot	VAR_006866	Disease	p.ARG172GLY	Patterned dystrophy of retinal pigment epithelium (PDREP)
Swiss-Prot	VAR_032054	Disease	p.ARG195LEU	Choroidal dystrophy, central areolar 2 (CACD2)
Swiss-Prot	VAR_006853	Disease	p.ARG13TRP	Retinitis pigmentosa 7 (RP7)
Swiss-Prot	VAR_006860	Disease	p.ARG142TRP	Retinitis pigmentosa 7 (RP7)
Swiss-Prot	VAR_006868	Polymorphism	p.ARG172TRP	N/A
Swiss-Prot	VAR_006886	Disease	p.ARG220TRP	Patterned dystrophy of retinal pigment epithelium (PDREP)
Swiss-Prot	VAR_006888	Polymorphism	p.ASN244HIS	N/A
Swiss-Prot	VAR_006887	Disease	p.ASN244LYS	Retinitis pigmentosa 7 (RP7)
Swiss-Prot	VAR_006863	Disease	p.ASP157ASN	Patterned dystrophy of retinal pigment epithelium (PDREP)
Swiss-Prot	VAR_006869	Disease	p.ASP173VAL	Retinitis pigmentosa 7 (RP7)
Swiss-Prot	VAR_006879	Disease	p.CYS213ARG	Patterned dystrophy of retinal pigment epithelium (PDREP)
Swiss-Prot	VAR_006880	Disease	p.CYS214SER	Retinitis pigmentosa 7 (RP7)
Swiss-Prot	VAR_006864	Disease	p.CYS165TYR	Retinitis pigmentosa 7 (RP7)
Swiss-Prot	VAR_006891	Polymorphism	p.GLU304GLN	N/A
Swiss-Prot	VAR_006857	Disease	p.GLY68ARG	Patterned dystrophy of retinal pigment epithelium (PDREP)
Swiss-Prot	VAR_006865	Disease	p.GLY167ASP	Patterned dystrophy of retinal pigment epithelium (PDREP)
Swiss-Prot	VAR_006873	Disease	p.GLY208ASP	Retinitis pigmentosa 7 (RP7)
Swiss-Prot	VAR_006889	Disease	p.GLY266ASP	Retinitis pigmentosa 7 (RP7)
Swiss-Prot	VAR_006892	Disease	p.GLY305ASP	Adult-onset vitelliform macular dystrophy (AVMD)
Swiss-Prot	VAR_006895	Polymorphism	p.GLY338ASP	N/A
Swiss-Prot	VAR_032052	Disease	p.GLY167SER	Patterned dystrophy of retinal pigment epithelium (PDREP)
Swiss-Prot	VAR_006854	Polymorphism	p.ILE32VAL	N/A
Swiss-Prot	VAR_006859	Disease	p.LEU126ARG	Retinitis pigmentosa 7 (RP7)
Swiss-Prot	VAR_006855	Disease	p.LEU45PHE	Retinitis pigmentosa 7 (RP7)
Swiss-Prot	VAR_006871	Disease	p.LEU185PRO	Retinitis pigmentosa 7 (RP7)
Swiss-Prot	VAR_006861	Disease	p.LYS153ARG	Retinitis pigmentosa 7 (RP7)
Swiss-Prot	VAR_006893	Polymorphism	p.LYS310ARG	N/A
Swiss-Prot	VAR_006876	Disease	p.PHE211LEU	Retinitis pigmentosa 7 (RP7)
Swiss-Prot	VAR_006874	Disease	p.PRO210ARG	Retinitis pigmentosa 7 (RP7)
Swiss-Prot	VAR_006883	Polymorphism	p.PRO219ARG	N/A
Swiss-Prot	VAR_006881	Disease	p.PRO216LEU	Retinitis pigmentosa 7 (RP7)
Swiss-Prot	VAR_006894	Polymorphism	p.PRO313LEU	N/A
Swiss-Prot	VAR_006875	Disease	p.PRO210SER	Retinitis pigmentosa 7 (RP7)
Swiss-Prot	VAR_006882	Disease	p.PRO216SER	Retinitis pigmentosa 7 (RP7)
Swiss-Prot	VAR_006877	Disease	p.SER212GLY	Retinitis pigmentosa 7 (RP7)
Swiss-Prot	VAR_006878	Disease	p.SER212THR	Adult-onset vitelliform macular dystrophy (AVMD)
Swiss-Prot	VAR_006870	Polymorphism	p.TYR184SER	N/A
Swiss-Prot	VAR_006890	Disease	p.VAL268ILE	Adult-onset vitelliform macular dystrophy (AVMD)

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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