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Results for the Protein: P14679
401235
TYR

TYRO_HUMAN RecName: Full=Tyrosinase; AltName: Full=LB24-AB; AltName: Full=Monophenol monooxygenase; AltName: Full=SK29-AB; AltName: Full=Tumor rejection antigen AB; Flags: Precursor

Known Diseases associated with this Protein:
  ALBINISM, OCULOCUTAN
  ALBINISM, OCULOCUTANEOUS TYPE I, TEMPERATURE-SENSITIVE
  ALBINISM, OCULOCUTANEOUS, 1A (OCA1A)
  ALBINISM, OCULOCUTANEOUS, 1B (OCA1B)
  ALBINISM, OCULOCUTANEOUS, TYPE IA
  ALBINISM, OCULOCUTANEOUS, TYPE IA, INCLUDED
  ALBINISM, OCULOCUTANEOUS, TYPE IB
  ALBINISM, OCULOCUTANEOUS, TYPE IB, INCLUDED
  SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING, INCLUDED
  SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
  WAARDENBURG SYNDROME 2 AND OCULAR ALBINISM, DIGENIC, INCLUDED;;
129
10
31
2
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Swiss-Prot Protein: P14679
Identical to: NP_000363
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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_007931Diseasep.ALA355GLUAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007678Diseasep.ALA355PROAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021695Diseasep.ALA201SERAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021720Diseasep.ALA416SERAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007663Diseasep.ALA206THRAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007667Diseasep.ARG217GLNAlbinism, oculocutaneous, 1A (OCA1A)
dbSNPrs1126809 Polymorphismp.ARG402GLNN/A
Swiss-ProtVAR_007691Diseasep.ARG422GLNAlbinism, oculocutaneous, 1B (OCA1B)
Swiss-ProtVAR_007655Diseasep.ARG77GLNAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007665Diseasep.ARG217GLYAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007937Diseasep.ARG402GLYAlbinism, oculocutaneous, 1B (OCA1B)
Swiss-ProtVAR_007671Diseasep.ARG299HISAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021725Diseasep.ARG434ILEAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007653Polymorphismp.ARG52ILEN/A
Swiss-ProtVAR_021715Diseasep.ARG402LEUAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021717Diseasep.ARG405LEUAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021697Diseasep.ARG217SERAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007672Diseasep.ARG299SERAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007687Diseasep.ARG403SERAlbinism, oculocutaneous, 1B (OCA1B)
Swiss-ProtVAR_011825Polymorphismp.ARG308THRN/A
Swiss-ProtVAR_007666Diseasep.ARG217TRPAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021701Diseasep.ARG239TRPAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007656Diseasep.ARG77TRPAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021726Diseasep.ASN435ASPAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007682Diseasep.ASN382LYSAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007679Diseasep.ASN371THRAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007935Diseasep.ASN371TYRAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021694Diseasep.ASP199ASNAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007683Diseasep.ASP383ASNAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007693Diseasep.ASP448ASNAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007651Diseasep.ASP42GLYAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021728Diseasep.ASP444GLYAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021702Diseasep.ASP240VALAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007670Diseasep.CYS289ARGAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007659Diseasep.CYS89ARGAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_009237Diseasep.CYS289GLYAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021683Diseasep.CYS36TYRAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007654Diseasep.CYS55TYRAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021718Diseasep.GLN408HISAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021687Diseasep.GLN68HISAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021711Diseasep.GLN378LYSAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021713Diseasep.GLU398ALAAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021719Diseasep.GLU409ASPAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007929Diseasep.GLU328GLNAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021706Diseasep.GLU294GLYAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021710Diseasep.GLU345GLYAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007928Diseasep.GLU294LYSAlbinism, oculocutaneous, 1B (OCA1B)
Swiss-ProtVAR_021714Diseasep.GLU398VALAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021689Diseasep.GLY109ARGAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007668Diseasep.GLY253ARGAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007690Diseasep.GLY419ARGAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007660Diseasep.GLY97ARGAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007652Diseasep.GLY47ASPAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007930Diseasep.GLY346GLUAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007692Diseasep.GLY446SERAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021686Diseasep.GLY47VALAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021693Diseasep.HIS180ASNAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021716Diseasep.HIS404ASNAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007684Diseasep.HIS390ASPAlbinism, oculocutaneous, 1B (OCA1B)
Swiss-ProtVAR_007649Diseasep.HIS19GLNAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007688Polymorphismp.HIS404PRON/A
Swiss-ProtVAR_021704Diseasep.HIS256TYRAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007933Diseasep.HIS367TYRAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007664Diseasep.LEU216METAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007927Diseasep.LEU288SERAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007673Polymorphismp.LEU312VALN/A
Swiss-ProtVAR_042665Polymorphismp.LYS142ASNN/A
Swiss-ProtVAR_021703Diseasep.LYS243THRAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021692Diseasep.MET179LEUAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021723Diseasep.MET426LYSAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021709Diseasep.MET332THRAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007934Diseasep.MET370THRAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_034576Polymorphismp.PHE134CYSN/A
Swiss-ProtVAR_007661Diseasep.PHE176ILEAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007677Polymorphismp.PHE340LEUN/A
Swiss-ProtVAR_021727Diseasep.PHE439VALAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007674Polymorphismp.PRO313ARGN/A
Swiss-ProtVAR_021721Diseasep.PRO417HISAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007689Diseasep.PRO406LEUAlbinism, oculocutaneous, 1B (OCA1B)
Swiss-ProtVAR_007938Diseasep.PRO431LEUAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007658Diseasep.PRO81LEUAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007925Diseasep.PRO152SERAlbinism, oculocutaneous, 1B (OCA1B)
Swiss-ProtVAR_007650Diseasep.PRO21SERAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021696Diseasep.PRO205THRAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007932Diseasep.SER361ARGAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021712Diseasep.SER395ARGAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021685Diseasep.SER44ARGAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007685Diseasep.SER395ASNAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007676Diseasep.SER339GLYAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021684Diseasep.SER44GLYAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021688Diseasep.SER79LEUAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021722Diseasep.SER424PHEAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021708Diseasep.SER329PROAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007681Diseasep.SER380PROAlbinism, oculocutaneous, 1B (OCA1B)
dbSNPrs1042602 Polymorphismp.SER192TYRN/A
Swiss-ProtVAR_007675Diseasep.THR325ALAAlbinism, oculocutaneous, 1B (OCA1B)
Swiss-ProtVAR_007680Diseasep.THR373LYSAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021690Diseasep.THR155SERAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007657Diseasep.TRP80ARGAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021705Diseasep.TRP272CYSAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021699Diseasep.TRP236LEUAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_009238Diseasep.TRP400LEUAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021700Diseasep.TRP236SERAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021707Diseasep.VAL318GLUAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021724Diseasep.VAL427GLYAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_021691Diseasep.VAL177PHEAlbinism, oculocutaneous, 1A (OCA1A)
Swiss-ProtVAR_007669Diseasep.VAL275PHEAlbinism, oculocutaneous, 1B (OCA1B)
Swiss-ProtVAR_007936Diseasep.VAL393PHEAlbinism, oculocutaneous, 1A (OCA1A)
OMIM606933.0021 Diseasep.ALA206THRALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0009 Diseasep.ARG402GLNALBINISM, OCULOCUTANEOUS, TYPE IB||WAARDENBURG SYNDROME 2 AND OCULAR ALBINISM, DIGENIC, INCLUDED;;||ALBINISM, OCULOCUTAN
OMIM606933.0012 Diseasep.ARG422GLNALBINISM, OCULOCUTANEOUS TYPE I, TEMPERATURE-SENSITIVE
OMIM606933.0010 Diseasep.ARG59GLNALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0005 Diseasep.ARG77GLNALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0026 Diseasep.ARG299HISALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0030 Diseasep.ARG403SERALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0025 Diseasep.ARG217TRPALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0016 Diseasep.ASN382LYSALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0028 Diseasep.ASN371THRALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0004 Diseasep.ASP365ASNALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0032 Diseasep.ASP448ASNALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0019 Diseasep.ASP42GLYALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0011 Diseasep.CYS89ARGALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0020 Diseasep.CYS55TYRALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0038 Diseasep.CYS91TYRALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0022 Diseasep.GLY419ARGALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0015 Diseasep.GLY191ASPALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0024 Diseasep.GLY47ASPALBINISM, OCULOCUTANEOUS, TYPE IA||ALBINISM, OCULOCUTANEOUS, TYPE IB, INCLUDED
OMIM606933.0031 Diseasep.GLY446SERALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0036 Diseasep.LEU216METALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0018 Diseasep.MET96ASNALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0037 Diseasep.MET1VALALBINISM, OCULOCUTANEOUS, TYPE IB
OMIM606933.0006 Diseasep.PRO406LEUALBINISM, OCULOCUTANEOUS, TYPE IB
OMIM606933.0002 Diseasep.PRO81LEUALBINISM, OCULOCUTANEOUS, TYPE IB||ALBINISM, OCULOCUTANEOUS, TYPE IA, INCLUDED
OMIM606933.0023 Diseasep.PRO21SERALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0008 Diseasep.SER192TYRSKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN||SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING, INCLUDED
OMIM606933.0003 Diseasep.THR355LYSALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0014 Diseasep.TRP178TERALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0035 Diseasep.TRP236TERALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM606933.0007 Diseasep.VAL275PHEALBINISM, OCULOCUTANEOUS, TYPE IB



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