LOCUS AAC51772.1 452 aa PRT HUM 02-OCT-1997 DEFINITION Homo sapiens phenylalanine hydroxylase protein. ACCESSION U49897-1 PROTEIN_ID AAC51772.1 SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2680) AUTHORS Konecki,D.S., Wang,Y., Trefz,F.K., Lichter-Konecki,U. and Woo,S.L. TITLE Structural characterization of the 5' regions of the human phenylalanine hydroxylase gene JOURNAL Biochemistry 31 (35), 8363-8368 (1992) PUBMED 1326329 REFERENCE 2 (bases 1 to 2680) AUTHORS Nowacki,P., Byck,S., Prevost,L. and Scriver,C.R. TITLE The PAH mutation analysis consortium database: update 1996 JOURNAL Nucleic Acids Res. 25 (1), 139-142 (1997) PUBMED 9016524 REFERENCE 3 (bases 1 to 2680) AUTHORS Scriver,C., Nowacki,P.M., Byck,S. and Prevost,L. TITLE Direct Submission JOURNAL Submitted (26-FEB-1996) Charles Scriver, Debelle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper St., Montreal, Quebec H3H 1P3, Canada REFERENCE 4 (bases 1 to 2680) AUTHORS Scriver,C., Nowacki,P.M., Byck,S. and Prevost,L. TITLE Direct Submission JOURNAL Submitted (30-SEP-1997) Charles Scriver, Debelle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper St., Montreal, Quebec H3H 1P3, Canada REMARK Sequence update by submitter COMMENT On Oct 2, 1997 this sequence version replaced gi:2447212. FEATURES Qualifiers source /db_xref="H-InvDB:HIT000220124" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="12" /map="12q22-q2401" protein /gene="PAH" /EC_number="1.14.16.1" BEGIN 1 MSTAVLENPG LGRKLSDFGQ ETSYIEDNCN QNGAISLIFS LKEEVGALAK VLRLFEENDV 61 NLTHIESRPS RLKKDEYEFF THLDKRSLPA LTNIIKILRH DIGATVHELS RDKKKDTVPW 121 FPRTIQELDR FANQILSYGA ELDADHPGFK DPVYRARRKQ FADIAYNYRH GQPIPRVEYM 181 EEEKKTWGTV FKTLKSLYKT HACYEYNHIF PLLEKYCGFH EDNIPQLEDV SQFLQTCTGF 241 RLRPVAGLLS SRDFLGGLAF RVFHCTQYIR HGSKPMYTPE PDICHELLGH VPLFSDRSFA 301 QFSQEIGLAS LGAPDEYIEK LATIYWFTVE FGLCKQGDSI KAYGAGLLSS FGELQYCLSE 361 KPKLLPLELE KTAIQNYTVT EFQPLYYVAE SFNDAKEKVR NFAATIPRPF SVRYDPYTQR 421 IEVLDNTQQL KILADSINSE IGILCSALQK IK //