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Results for the Protein: P23942
132212

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)
30
10
0
0
40
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Swiss-Prot Protein: P23942
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_006867Polymorphismp.ARG172GLNN/A
Swiss-ProtVAR_006885Diseasep.ARG220GLNPatterned dystrophy of retinal pigment epithelium (PDREP)
Swiss-ProtVAR_006866Diseasep.ARG172GLYPatterned dystrophy of retinal pigment epithelium (PDREP)
Swiss-ProtVAR_032054Diseasep.ARG195LEUChoroidal dystrophy, central areolar 2 (CACD2)
Swiss-ProtVAR_006853Diseasep.ARG13TRPRetinitis pigmentosa 7 (RP7)
Swiss-ProtVAR_006860Diseasep.ARG142TRPRetinitis pigmentosa 7 (RP7)
Swiss-ProtVAR_006868Polymorphismp.ARG172TRPN/A
Swiss-ProtVAR_006886Diseasep.ARG220TRPPatterned dystrophy of retinal pigment epithelium (PDREP)
Swiss-ProtVAR_006888Polymorphismp.ASN244HISN/A
Swiss-ProtVAR_006887Diseasep.ASN244LYSRetinitis pigmentosa 7 (RP7)
Swiss-ProtVAR_006863Diseasep.ASP157ASNPatterned dystrophy of retinal pigment epithelium (PDREP)
Swiss-ProtVAR_006869Diseasep.ASP173VALRetinitis pigmentosa 7 (RP7)
Swiss-ProtVAR_006879Diseasep.CYS213ARGPatterned dystrophy of retinal pigment epithelium (PDREP)
Swiss-ProtVAR_006880Diseasep.CYS214SERRetinitis pigmentosa 7 (RP7)
Swiss-ProtVAR_006864Diseasep.CYS165TYRRetinitis pigmentosa 7 (RP7)
Swiss-ProtVAR_006891Polymorphismp.GLU304GLNN/A
Swiss-ProtVAR_006857Diseasep.GLY68ARGPatterned dystrophy of retinal pigment epithelium (PDREP)
Swiss-ProtVAR_006865Diseasep.GLY167ASPPatterned dystrophy of retinal pigment epithelium (PDREP)
Swiss-ProtVAR_006873Diseasep.GLY208ASPRetinitis pigmentosa 7 (RP7)
Swiss-ProtVAR_006889Diseasep.GLY266ASPRetinitis pigmentosa 7 (RP7)
Swiss-ProtVAR_006892Diseasep.GLY305ASPAdult-onset vitelliform macular dystrophy (AVMD)
Swiss-ProtVAR_006895Polymorphismp.GLY338ASPN/A
Swiss-ProtVAR_032052Diseasep.GLY167SERPatterned dystrophy of retinal pigment epithelium (PDREP)
Swiss-ProtVAR_006854Polymorphismp.ILE32VALN/A
Swiss-ProtVAR_006859Diseasep.LEU126ARGRetinitis pigmentosa 7 (RP7)
Swiss-ProtVAR_006855Diseasep.LEU45PHERetinitis pigmentosa 7 (RP7)
Swiss-ProtVAR_006871Diseasep.LEU185PRORetinitis pigmentosa 7 (RP7)
Swiss-ProtVAR_006861Diseasep.LYS153ARGRetinitis pigmentosa 7 (RP7)
Swiss-ProtVAR_006893Polymorphismp.LYS310ARGN/A
Swiss-ProtVAR_006876Diseasep.PHE211LEURetinitis pigmentosa 7 (RP7)
Swiss-ProtVAR_006874Diseasep.PRO210ARGRetinitis pigmentosa 7 (RP7)
Swiss-ProtVAR_006883Polymorphismp.PRO219ARGN/A
Swiss-ProtVAR_006881Diseasep.PRO216LEURetinitis pigmentosa 7 (RP7)
Swiss-ProtVAR_006894Polymorphismp.PRO313LEUN/A
Swiss-ProtVAR_006875Diseasep.PRO210SERRetinitis pigmentosa 7 (RP7)
Swiss-ProtVAR_006882Diseasep.PRO216SERRetinitis pigmentosa 7 (RP7)
Swiss-ProtVAR_006877Diseasep.SER212GLYRetinitis pigmentosa 7 (RP7)
Swiss-ProtVAR_006878Diseasep.SER212THRAdult-onset vitelliform macular dystrophy (AVMD)
Swiss-ProtVAR_006870Polymorphismp.TYR184SERN/A
Swiss-ProtVAR_006890Diseasep.VAL268ILEAdult-onset vitelliform macular dystrophy (AVMD)



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