Results for the protein: P14679

Results for the Protein: P14679

401235

7299

TYR

NCBI, UniProt

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

106

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Default View:	Swiss-Prot Protein: P14679 Identical to: NP_000363 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_007931	Disease	p.ALA355GLU	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007678	Disease	p.ALA355PRO	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021695	Disease	p.ALA201SER	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021720	Disease	p.ALA416SER	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007663	Disease	p.ALA206THR	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007667	Disease	p.ARG217GLN	Albinism, oculocutaneous, 1A (OCA1A)
dbSNP	rs1126809	Polymorphism	p.ARG402GLN	N/A
Swiss-Prot	VAR_007691	Disease	p.ARG422GLN	Albinism, oculocutaneous, 1B (OCA1B)
Swiss-Prot	VAR_007655	Disease	p.ARG77GLN	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007665	Disease	p.ARG217GLY	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007937	Disease	p.ARG402GLY	Albinism, oculocutaneous, 1B (OCA1B)
Swiss-Prot	VAR_007671	Disease	p.ARG299HIS	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021725	Disease	p.ARG434ILE	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007653	Polymorphism	p.ARG52ILE	N/A
Swiss-Prot	VAR_021715	Disease	p.ARG402LEU	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021717	Disease	p.ARG405LEU	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021697	Disease	p.ARG217SER	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007672	Disease	p.ARG299SER	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007687	Disease	p.ARG403SER	Albinism, oculocutaneous, 1B (OCA1B)
Swiss-Prot	VAR_011825	Polymorphism	p.ARG308THR	N/A
Swiss-Prot	VAR_007666	Disease	p.ARG217TRP	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021701	Disease	p.ARG239TRP	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007656	Disease	p.ARG77TRP	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021726	Disease	p.ASN435ASP	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007682	Disease	p.ASN382LYS	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007679	Disease	p.ASN371THR	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007935	Disease	p.ASN371TYR	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021694	Disease	p.ASP199ASN	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007683	Disease	p.ASP383ASN	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007693	Disease	p.ASP448ASN	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007651	Disease	p.ASP42GLY	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021728	Disease	p.ASP444GLY	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021702	Disease	p.ASP240VAL	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007670	Disease	p.CYS289ARG	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007659	Disease	p.CYS89ARG	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_009237	Disease	p.CYS289GLY	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021683	Disease	p.CYS36TYR	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007654	Disease	p.CYS55TYR	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021718	Disease	p.GLN408HIS	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021687	Disease	p.GLN68HIS	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021711	Disease	p.GLN378LYS	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021713	Disease	p.GLU398ALA	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021719	Disease	p.GLU409ASP	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007929	Disease	p.GLU328GLN	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021706	Disease	p.GLU294GLY	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021710	Disease	p.GLU345GLY	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007928	Disease	p.GLU294LYS	Albinism, oculocutaneous, 1B (OCA1B)
Swiss-Prot	VAR_021714	Disease	p.GLU398VAL	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021689	Disease	p.GLY109ARG	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007668	Disease	p.GLY253ARG	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007690	Disease	p.GLY419ARG	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007660	Disease	p.GLY97ARG	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007652	Disease	p.GLY47ASP	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007930	Disease	p.GLY346GLU	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007692	Disease	p.GLY446SER	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021686	Disease	p.GLY47VAL	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021693	Disease	p.HIS180ASN	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021716	Disease	p.HIS404ASN	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007684	Disease	p.HIS390ASP	Albinism, oculocutaneous, 1B (OCA1B)
Swiss-Prot	VAR_007649	Disease	p.HIS19GLN	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007688	Polymorphism	p.HIS404PRO	N/A
Swiss-Prot	VAR_021704	Disease	p.HIS256TYR	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007933	Disease	p.HIS367TYR	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007664	Disease	p.LEU216MET	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007927	Disease	p.LEU288SER	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007673	Polymorphism	p.LEU312VAL	N/A
Swiss-Prot	VAR_042665	Polymorphism	p.LYS142ASN	N/A
Swiss-Prot	VAR_021703	Disease	p.LYS243THR	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021692	Disease	p.MET179LEU	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021723	Disease	p.MET426LYS	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021709	Disease	p.MET332THR	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007934	Disease	p.MET370THR	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_034576	Polymorphism	p.PHE134CYS	N/A
Swiss-Prot	VAR_007661	Disease	p.PHE176ILE	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007677	Polymorphism	p.PHE340LEU	N/A
Swiss-Prot	VAR_021727	Disease	p.PHE439VAL	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007674	Polymorphism	p.PRO313ARG	N/A
Swiss-Prot	VAR_021721	Disease	p.PRO417HIS	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007689	Disease	p.PRO406LEU	Albinism, oculocutaneous, 1B (OCA1B)
Swiss-Prot	VAR_007938	Disease	p.PRO431LEU	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007658	Disease	p.PRO81LEU	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007925	Disease	p.PRO152SER	Albinism, oculocutaneous, 1B (OCA1B)
Swiss-Prot	VAR_007650	Disease	p.PRO21SER	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021696	Disease	p.PRO205THR	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007932	Disease	p.SER361ARG	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021712	Disease	p.SER395ARG	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021685	Disease	p.SER44ARG	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007685	Disease	p.SER395ASN	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007676	Disease	p.SER339GLY	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021684	Disease	p.SER44GLY	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021688	Disease	p.SER79LEU	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021722	Disease	p.SER424PHE	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021708	Disease	p.SER329PRO	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007681	Disease	p.SER380PRO	Albinism, oculocutaneous, 1B (OCA1B)
dbSNP	rs1042602	Polymorphism	p.SER192TYR	N/A
Swiss-Prot	VAR_007675	Disease	p.THR325ALA	Albinism, oculocutaneous, 1B (OCA1B)
Swiss-Prot	VAR_007680	Disease	p.THR373LYS	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021690	Disease	p.THR155SER	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007657	Disease	p.TRP80ARG	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021705	Disease	p.TRP272CYS	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021699	Disease	p.TRP236LEU	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_009238	Disease	p.TRP400LEU	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021700	Disease	p.TRP236SER	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021707	Disease	p.VAL318GLU	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021724	Disease	p.VAL427GLY	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_021691	Disease	p.VAL177PHE	Albinism, oculocutaneous, 1A (OCA1A)
Swiss-Prot	VAR_007669	Disease	p.VAL275PHE	Albinism, oculocutaneous, 1B (OCA1B)
Swiss-Prot	VAR_007936	Disease	p.VAL393PHE	Albinism, oculocutaneous, 1A (OCA1A)
OMIM	606933.0021	Disease	p.ALA206THR	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0009	Disease	p.ARG402GLN	ALBINISM, OCULOCUTANEOUS, TYPE IB\|\|WAARDENBURG SYNDROME 2 AND OCULAR ALBINISM, DIGENIC, INCLUDED;;\|\|ALBINISM, OCULOCUTAN
OMIM	606933.0012	Disease	p.ARG422GLN	ALBINISM, OCULOCUTANEOUS TYPE I, TEMPERATURE-SENSITIVE
OMIM	606933.0010	Disease	p.ARG59GLN	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0005	Disease	p.ARG77GLN	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0026	Disease	p.ARG299HIS	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0030	Disease	p.ARG403SER	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0025	Disease	p.ARG217TRP	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0016	Disease	p.ASN382LYS	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0028	Disease	p.ASN371THR	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0004	Disease	p.ASP365ASN	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0032	Disease	p.ASP448ASN	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0019	Disease	p.ASP42GLY	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0011	Disease	p.CYS89ARG	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0020	Disease	p.CYS55TYR	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0038	Disease	p.CYS91TYR	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0022	Disease	p.GLY419ARG	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0015	Disease	p.GLY191ASP	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0024	Disease	p.GLY47ASP	ALBINISM, OCULOCUTANEOUS, TYPE IA\|\|ALBINISM, OCULOCUTANEOUS, TYPE IB, INCLUDED
OMIM	606933.0031	Disease	p.GLY446SER	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0036	Disease	p.LEU216MET	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0018	Disease	p.MET96ASN	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0037	Disease	p.MET1VAL	ALBINISM, OCULOCUTANEOUS, TYPE IB
OMIM	606933.0006	Disease	p.PRO406LEU	ALBINISM, OCULOCUTANEOUS, TYPE IB
OMIM	606933.0002	Disease	p.PRO81LEU	ALBINISM, OCULOCUTANEOUS, TYPE IB\|\|ALBINISM, OCULOCUTANEOUS, TYPE IA, INCLUDED
OMIM	606933.0023	Disease	p.PRO21SER	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0008	Disease	p.SER192TYR	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN\|\|SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING, INCLUDED
OMIM	606933.0003	Disease	p.THR355LYS	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0014	Disease	p.TRP178TER	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0035	Disease	p.TRP236TER	ALBINISM, OCULOCUTANEOUS, TYPE IA
OMIM	606933.0007	Disease	p.VAL275PHE	ALBINISM, OCULOCUTANEOUS, TYPE IB

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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