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Results for the Protein: Q04671
90110050

P_HUMAN RecName: Full=P protein; AltName: Full=Melanocyte-specific transporter protein; AltName: Full=Pink-eyed dilution protein homolog

Known Diseases associated with this Protein:
  ALBINISM, OCULOCUTANEOUS, 2 (OCA2)
  ALBINISM, OCULOCUTANEOUS, TYPE II
  SKIN/HAIR/EYE PIGMENTATION 1, BLUE/BROWN EYES, INCLUDED
  SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
46
20
9
5
52
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Default View:

CitT - COG0471
ArsB - COG1055
ArsB_permease - cd01118
SLC13_permease - cd01115
P_permease - cd01116
CitMHS - pfam03600
YbiR_permease - cd01117
ArsB_NhaD_permease - cd00625


Swiss-Prot Protein: Q04671
Identical to: NP_000266
   Default View:










Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CitTCOG04711.5e-06298837
ArsBCOG10553.2e-87327831
ArsB_permeasecd011181e-07333829
SLC13_permeasecd011151.6e-08335832
P_permeasecd011164.8e-277338829
YbiR_permeasecd011172.9e-28339828
ArsB_NhaD_permeasecd006254.2e-161342828
CitMHSpfam036004.3e-77338776

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_006121Polymorphismp.ALA257ASPN/A
Swiss-ProtVAR_006143Diseasep.ALA724PROAlbinism, oculocutaneous, 2 (OCA2)
dbSNPrs74653330 Polymorphismp.ALA481THRN/A
Swiss-ProtVAR_007940Diseasep.ALA481THRAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_036468Polymorphismp.ALA773THRN/A
Swiss-ProtVAR_020626Diseasep.ALA334VALAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_032095Polymorphismp.ALA336VALN/A
Swiss-ProtVAR_006124Diseasep.ALA368VALAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_006146Diseasep.ALA787VALAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_020636Diseasep.ARG720CYSAlbinism, oculocutaneous, 2 (OCA2)
dbSNPrs1800407 Polymorphismp.ARG419GLNN/A
Swiss-ProtVAR_020625Diseasep.ARG290GLYAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_032097Polymorphismp.ARG560HISN/A
Swiss-ProtVAR_020622Diseasep.ARG10TRPAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_032094Polymorphismp.ARG266TRPN/A
dbSNPrs1800401 Polymorphismp.ARG305TRPN/A
Swiss-ProtVAR_006129Diseasep.ARG419TRPAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_043700Diseasep.ASN476ASPAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_006135Diseasep.ASN489ASPAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_006119Diseasep.CYS112PHEAlbinism, oculocutaneous, 2 (OCA2)
dbSNPrs61742223 Polymorphismp.GLN21HISN/A
Swiss-ProtVAR_020638Diseasep.GLN799HISAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_020633Polymorphismp.GLU678LYSN/A
Swiss-ProtVAR_006117Diseasep.GLY27ARGAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_043701Diseasep.GLY775ARGAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_020637Diseasep.GLY795ARGAlbinism, oculocutaneous, 2 (OCA2)
dbSNPrs1800414 Polymorphismp.HIS615ARGN/A
Swiss-ProtVAR_006136Diseasep.HIS549GLNAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_020632Diseasep.ILE617LEUAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_006134Diseasep.ILE473SERAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_020628Polymorphismp.ILE370THRN/A
Swiss-ProtVAR_006142Polymorphismp.ILE722THRN/A
Swiss-ProtVAR_006131Polymorphismp.LEU440HISN/A
Swiss-ProtVAR_007939Polymorphismp.LEU440PHEN/A
Swiss-ProtVAR_020635Polymorphismp.LEU688PHEN/A
Swiss-ProtVAR_006138Diseasep.LYS614ASNAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_020631Diseasep.LYS614GLUAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_020630Diseasep.MET394ILEAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_006126Diseasep.MET395LEUAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_006133Diseasep.MET446VALAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_006125Diseasep.PHE385ILEAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_022019Polymorphismp.PRO241ARGN/A
Swiss-ProtVAR_020623Diseasep.PRO198LEUAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_020624Diseasep.PRO211LEUAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_006145Diseasep.PRO743LEUAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_006118Diseasep.SER86ARGAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_006144Diseasep.SER736LEUAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_006137Diseasep.THR592ILEAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_020629Polymorphismp.THR387METN/A
Swiss-ProtVAR_006127Diseasep.THR404METAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_006140Diseasep.TRP652ARGAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_006141Diseasep.TRP679ARGAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_020634Diseasep.TRP679CYSAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_043702Diseasep.TYR827HISAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_032096Polymorphismp.VAL519ALAN/A
Swiss-ProtVAR_006132Diseasep.VAL443ILEAlbinism, oculocutaneous, 2 (OCA2)
Swiss-ProtVAR_020627Polymorphismp.VAL350METN/A
OMIM611409.0003 Diseasep.ALA481THRALBINISM, OCULOCUTANEOUS, TYPE II
OMIM611409.0007 Diseasep.ALA334VALALBINISM, OCULOCUTANEOUS, TYPE II
OMIM611409.0012 Diseasep.ARG419GLNSKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OMIM611409.0011 Diseasep.ARG305TRPSKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES||SKIN/HAIR/EYE PIGMENTATION 1, BLUE/BROWN EYES, INCLUDED
OMIM611409.0010 Diseasep.ASN489ASPALBINISM, OCULOCUTANEOUS, TYPE II
OMIM611409.0014 Diseasep.MET394ILEALBINISM, OCULOCUTANEOUS, TYPE II
OMIM611409.0005 Diseasep.PRO743LEUALBINISM, OCULOCUTANEOUS, TYPE II
OMIM611409.0009 Diseasep.TRP679CYSALBINISM, OCULOCUTANEOUS, TYPE II
OMIM611409.0004 Diseasep.VAL443ILEALBINISM, OCULOCUTANEOUS, TYPE II



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