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Index > Protein center > TYR(Gene name) > Human
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  • TYR (Gene name),
  • Tyrosinase (Protein name ),  TYRO_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • 3D
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    TYR;
    Protein name:
    Tyrosinase;
    Alternative:
    Monophenol monooxygenase;LB24-AB;Tumor rejection antigen AB;SK29-AB;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    N/A
    Function:
    This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the rate-limiting conversions of tyrosine to DOPA, DOPA to DOPA-quinone and possibly 5,6-dihydroxyindole to indole-5,6 quinone.
    Subcellular Location:
    Melanosome membrane Single-pass type I membrane protein
    Protein Attributes:
    Sequence length:
    529
    Sequence:
    50:
    MLLAVLYCLL | WSFQTSAGHF | PRACVSSKNL | MEKECCPPWS | GDRSPCGQLS | 
    100:
    GRGSCQNILL | SNAPLGPQFP | FTGVDDRESW | PSVFYNRTCQ | CSGNFMGFNC | 
    150:
    GNCKFGFWGP | NCTERRLLVR | RNIFDLSAPE | KDKFFAYLTL | AKHTISSDYV | 
    200:
    IPIGTYGQMK | NGSTPMFNDI | NIYDLFVWMH | YYVSMDALLG | GSEIWRDIDF | 
    250:
    AHEAPAFLPW | HRLFLLRWEQ | EIQKLTGDEN | FTIPYWDWRD | AEKCDICTDE | 
    300:
    YMGGQHPTNP | NLLSPASFFS | SWQIVCSRLE | EYNSHQSLCN | GTPEGPLRRN | 
    350:
    PGNHDKSRTP | RLPSSADVEF | CLSLTQYESG | SMDKAANFSF | RNTLEGFASP | 
    400:
    LTGIADASQS | SMHNALHIYM | NGTMSQVQGS | ANDPIFLLHH | AFVDSIFEQW | 
    450:
    LRRHRPLQEV | YPEANAPIGH | NRESYMVPFI | PLYRNGDFFI | SSKDLGYDYS | 
    500:
    YLQDSDPDSF | QDYIKSYLEQ | ASRIWSWLLG | AAMVGAVLTA | LLAGLVSLLC | 
    529:
    RHKRKQLPEE | KQPLLMEKED | YHSLYQSHL
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
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    Related Databases
    UniGene:
    KEGG:
    MIM:
    Pfam:
    String:
    SMR:
    Uniprot:
     
    FOR
    ELISA Kit for Human Tyrosinase
    Cat.:
    E1208m
    Price:
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    MSDS:
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    Packing:
    96T
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    ELISA Kit for Human Tyrosinase
    Cat.:
    E1208h
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    MSDS:
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    Packing:
    96T
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    ELISA Kit for Human Tyrosinase
    Cat.:
    E1208d
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    MSDS:
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    Packing:
    96T
    ELISA Kit for Human Tyrosinase
    Cat.:
    E1208b
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    MSDS:
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    Packing:
    96T
    ELISA Kit for Human Tyrosinase
    Cat.:
    E1208c
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    MSDS:
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    Packing:
    96T
    CLIA Kit for Human Tyrosinase
    Cat.:
    U1208c
    Price:
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    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Tyrosinase
    Cat.:
    U1208b
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Tyrosinase
    Cat.:
    U1208h
    Price:
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    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human Tyrosinase
    Cat.:
    U1208m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human Tyrosinase
    Cat.:
    U1208d
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    MSDS:
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    Packing:
    96T
    Polyclonal Antibody for Human Tyrosinase
    Polyclonal Antibody for Human Tyrosinase
    Cat.:
    P1208Rb-h
    Price:
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Tyrosinase
    Polyclonal Antibody for Human Tyrosinase
    Polyclonal Antibody for Human Tyrosinase
    Cat.:
    P1208Rb-m
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human Tyrosinase
    Monoclonal Antibody for Human Tyrosinase
    Monoclonal Antibody for Human Tyrosinase
    Monoclonal Antibody for Human Tyrosinase
    Monoclonal Antibody for Human Tyrosinase
    Protein for Human Tyrosinase
    Protein for Human Tyrosinase
    Protein for Human Tyrosinase
    Protein for Human Tyrosinase
    Protein for Human Tyrosinase

    R&D Technical Data
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    Precision
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    Recovery
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    Linearity
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    References
    1. 1.
      "Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment."
      Giebel L.B. , Strunk K.M. , Spritz R.A.
      Genomics9:435-445(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1)
    2. 2.
      "Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus."
      Kwon B.S. , Haq A.K. , Pomerantz S.H. , Halaban R.
      Proc. Natl. Acad. Sci. U.S.A.84:7473-7477(1987) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
    3. 3.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM;SEQUENCE REVISION TO 384-398
    4. 4.
      "Induction of pigmentation in mouse fibroblasts by expression of human tyrosinase cDNA."
      Bouchard B. , Fuller B.B. , Vijayasaradhi S. , Houghton A.N.
      J. Exp. Med.169:2029-2042(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
      tissue: Melanoma.
    5. 5.
      "A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism."
      Chintamaneni C.D. , Halaban R. , Kobayashi Y. , Witkop C.J. , Kwon B.S.
      Proc. Natl. Acad. Sci. U.S.A.88:5272-5276(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
    6. 6.
      "The tyrosinase gene codes for an antigen recognized by autologous cytolytic T lymphocytes on HLA-A2 melanomas."
      Brichard V. , van Pel A. , Woelfel T. , Woelfel C. , de Plaen E. , Lethe B.G. , Coulie P. , Boon T.
      J. Exp. Med.178:489-495(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE (ISOFORM 1)
      tissue: Melanoma.
      tissue: T-cell.
    7. 7.
      "The tyrosinase gene in gorillas and the albinism of 'Snowflake'."
      Martinez-Arias R. , Comas D. , Andres A. , Abello M.-T. , Domingo-Roura X. , Bertranpetit J.
      Pigment Cell Res.13:467-470(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1);VARIANT TYR-192
    8. 8.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)
      tissue: Skin.
    9. 9.
      "Characteristic sequences in the upstream region of the human tyrosinase gene."
      Kikuchi H. , Miura H. , Yamamoto H. , Takeuchi T. , Dei T. , Watanabe M.
      Biochim. Biophys. Acta1009:283-286(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-272
      tissue: Liver.
    10. 10.
      "Functional analysis of the cDNA encoding human tyrosinase precursor."
      Takeda A. , Tomita Y. , Okinaga S. , Tagami H. , Shibahara S.
      Biochem. Biophys. Res. Commun.162:984-990(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-32
    11. 11.
      "Molecular phylogenetics and the origins of placental mammals."
      Murphy W.J. , Eizirik E. , Johnson W.E. , Zhang Y.-P. , Ryder O.A. , O'Brien S.J.
      Nature409:614-618(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 54-195;VARIANT TYR-192
    12. 12.
      "Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene."
      Oetting W.S. , King R.A.
      Hum. Mutat.2:1-6(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON OCA VARIANTS
    13. 13.
      "Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism."
      Oetting W.S. , King R.A.
      Hum. Mutat.13:99-115(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON OCA1 VARIANTS
    14. 14.
      "Proteomic analysis of early melanosomes: identification of novel melanosomal proteins."
      Basrur V. , Yang F. , Kushimoto T. , Higashimoto Y. , Yasumoto K. , Valencia J. , Muller J. , Vieira W.D. , Watabe H. , Shabanowitz J. , Hearing V.J. , Hunt D.F. , Appella E.
      J. Proteome Res.2:69-79(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS]
      tissue: Melanoma.
    15. 15.
      "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes."
      Chi A. , Valencia J.C. , Hu Z.-Z. , Watabe H. , Yamaguchi H. , Mangini N.J. , Huang H. , Canfield V.A. , Cheng K.C. , Yang F. , Abe R. , Yamagishi S. , Shabanowitz J. , Hearing V.J. , Wu C. , Appella E. , Hunt D.F.
      J. Proteome Res.5:3135-3144(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS]
      tissue: Melanoma.
    16. 16.
      "Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism."
      Spritz R.A. , Strunk K.M. , Giebel L.B. , King R.A.
      N. Engl. J. Med.322:1724-1728(1990) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OCA1A LYS-373 AND ASN-383;VARIANTS TYR-192 AND GLN-402
    17. 17.
      "A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism."
      Giebel L.B. , Strunk K.M. , King R.A. , Hanifin J.M. , Spritz R.A.
      Proc. Natl. Acad. Sci. U.S.A.87:3255-3258(1990) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OCA1A LEU-81
    18. 18.
      "Tyrosinase gene mutations associated with type IB ('yellow') oculocutaneous albinism."
      Giebel L.B. , Tripathi R.K. , Strunk K.M. , Hanifin J.M. , Jackson C.E. , King R.A. , Spritz R.A.
      Am. J. Hum. Genet.48:1159-1167(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OCA1B PHE-275 AND LEU-406
    19. 19.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
    20. 20.
      "Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions."
      Tripathi R.K. , Strunk K.M. , Giebel L.B. , Weleber R.G. , Spritz R.A.
      Am. J. Med. Genet.43:865-871(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OCA1A SER-21; TRP-217; HIS-299; SER-403; SER-446 AND ASN-448
    21. 21.
      "Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism."
      Spritz R.A. , Strunk K.M. , Hsieh C.-L. , Sekhon G.S. , Francke U.
      Am. J. Hum. Genet.48:318-324(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OCA1A ARG-89
    22. 22.
      "A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse."
      Giebel L.B. , Tripathi R.K. , King R.A. , Spritz R.A.
      J. Clin. Invest.87:1119-1122(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OCA1B GLN-422
    23. 23.
      "Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism."
      King R.A. , Mentink M.M. , Oetting W.S.
      Mol. Biol. Med.8:19-29(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OCA1A GLY-42; TYR-55; THR-206 AND ARG-419
    24. 24.
      "Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism."
      Oetting W.S. , King R.A.
      Hum. Genet.90:258-262(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OCA1A ILE-176 AND GLN-217
    25. 25.
      "Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA)."
      Tripathi R.K. , Bundey S. , Musarella M.A. , Droetto S. , Strunk K.M. , Holmes S.A. , Spritz R.A.
      Am. J. Hum. Genet.53:1173-1179(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OCA1A GLN-328; ARG-419 AND LEU-431
    26. 26.
      "Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel."
      Gershoni-Baruch R. , Rosenmann A. , Droetto S. , Holmes S.A. , Tripathi R.K. , Spritz R.A.
      Am. J. Hum. Genet.54:586-594(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OCA1A ASP-47; CYS-217 DEL; HIS-299 AND LYS-373;VARIANTS OCA1B SER-152 AND LYS-294
    27. 27.
      "Initiation codon mutation of the tyrosinase gene as a cause of human albinism."
      Breimer L.H. , Winder A.F. , Jay B. , Jay M.
      Clin. Chim. Acta227:17-22(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OCA1A TYR-367; THR-370 AND LYS-373;VARIANT GLN-402
    28. 28.
      "Diagnosis of oculocutaneous albinism with molecular analysis."
      Summers C.G. , Oetting W.S. , King R.A.
      Am. J. Ophthalmol.121:724-726(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OCA1A ARG-361 AND TYR-371
    29. 29.
      "Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)."
      Morell R. , Spritz R.A. , Ho L. , Pierpont J. , Guo W. , Friedman T.B. , Asher J.H. Jr.
      Hum. Mol. Genet.6:659-664(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GLN-402
    30. 30.
      "Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)."
      Spritz R.A. , Oh J. , Fukai K. , Holmes S.A. , Ho L. , Chitayat D. , France T.D. , Musarella M.A. , Orlow S.J. , Schnur R.E. , Weleber R.G. , Levin A.V.
      Hum. Mutat.10:171-174(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OCA1A AND OCA1B
    31. 31.
      "Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1)."
      Oetting W.S. , Fryer J.P. , King R.A.
      Hum. Mutat.12:433-434(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OCA1A AND OCA1B
    32. 32.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
    33. 33.
      "Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population."
      Passmore L.A. , Kaesmann-Kellner B. , Weber B.H.F.
      Hum. Genet.105:200-210(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OCA1A TYR-36; GLN-77; TRP-77; LEU-81; ARG-97; GLN-217; TRP-217; SER-236; CYS-272; ARG-289; GLY-294; LYS-294; PRO-355; TYR-371; LYS-373; LEU-406; ARG-419; GLN-422; VAL-439; SER-446 AND ASN-448;VARIANT OCA1B SER-403;VARIANTS TYR-192 AND GLN-402
    34. 34.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
    35. 35.
      "Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan."
      Tsai C.-H. , Tsai F.-J. , Wu J.-Y. , Lin S.-P. , Chang J.-G. , Yang C.-F. , Lee C.-C.
      Hum. Mutat.14:542-542(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OCA1A TYR-55; ARG-77 INS; GLY-289; HIS-299; SER-299 AND LEU-400
    36. 36.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OCA1A ASP-47; GLN-77; ARG-109; THR-205; TYR-256; PHE-275; LYS-294; GLY-339; PRO-355; LYS-373; ASN-383 AND SER-446
    37. 37.
      "A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1)."
      Nakamura E. , Miyamura Y. , Matsunaga J. , Kano Y. , Dakeishi-Hara M. , Tanita M. , Kono M. , Tomita Y.
      J. Dermatol. Sci.28:102-105(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OCA1A TRP-239
    38. 38.
      "Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism."
      Opitz S. , Kaesmann-Kellner B. , Kaufmann M. , Schwinger E. , Zuehlke C.
      Hum. Mutat.23:630-631(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OCA1A ARG-44; GLY-44; ASP-47; VAL-47; HIS-68; GLN-77; LEU-79; LEU-81; SER-155; PHE-177; LEU-179; ASN-180; ASN-199; SER-201; SER-217; LEU-236; VAL-240; THR-243; TYR-256; ARG-289; GLU-318; PRO-329; THR-332; GLY-345; PRO-355; LYS-373; LYS-378; ASN-383; PHE-393; ARG-395; VAL-398; ALA-398; LEU-402; SER-403; ASN-404; LEU-405; LEU-406; HIS-408; ASP-409; SER-416; HIS-417; ARG-419; GLN-422; PHE-424; LYS-426; GLY-427; ILE-434; ASP-435; GLY-444 AND ASN-448;VARIANTS TYR-192 AND GLN-402
    39. 39.
      "A genomewide association study of skin pigmentation in a South Asian population."
      Stokowski R.P. , Pant P.V.K. , Dadd T. , Fereday A. , Hinds D.A. , Jarman C. , Filsell W. , Ginger R.S. , Green M.R. , van der Ouderaa F.J. , Cox D.R.
      Am. J. Hum. Genet.81:1119-1132(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT TYR-192;ASSOCIATION WITH SHEP3
    40. 40.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT TYR-192;ASSOCIATION WITH SHEP3
    41. 41.
      "Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism."
      Shah S.A. , Din S.U. , Raheem N. , Daud S. , Mubeen J. , Nadeem A. , Tayyab M. , Baloch D.M. , Babar M.E. , Ahmad J.
      Clin. Exp. Dermatol.39:646-648(2014) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OCA1A THR-198
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