LOCUS AF046785 2544 bp mRNA linear HUM 14-JUN-1998
DEFINITION Homo sapiens liver glycogen phosphorylase (PYGL) mRNA, complete
cds.
ACCESSION AF046785
VERSION AF046785.1
KEYWORDS .
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 2544)
AUTHORS Chang,S., Rosenberg,M.J., Morton,H., Francomano,C.A. and
Biesecker,L.G.
TITLE Identification of a mutation in liver glycogen phosphorylase in
glycogen storage disease type VI
JOURNAL Hum. Mol. Genet. 7 (5), 865-870 (1998)
PUBMED 9536091
REFERENCE 2 (bases 1 to 2544)
AUTHORS Chang,S., Rosenberg,M.J., Morton,H., Francomano,C.F. and
Biesecker,L.G.
TITLE Direct Submission
JOURNAL Submitted (03-FEB-1998) Laboratory of Genetic Disease Research,
National Human Genome Research Institute, 49 Convent Dr., Rm. 4A80,
Bethesda, MD 20892-4472, USA
FEATURES Location/Qualifiers
source 1..2544
/db_xref="H-InvDB:HIT000064013"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="14"
/map="14q21-q22"
gene 1..2544
/gene="PYGL"
CDS 1..2544
/gene="PYGL"
/EC_number="2.4.1.1"
/codon_start=1
/product="liver glycogen phosphorylase"
/protein_id="AAC23504.1"
/translation="MGEPLTDQEKRRQISIRGIVGVENVAELKKSFNRHLHFTLVKDR
NVATTRDYYFALAHTVRDHLVGRWIRTQQHYYDKCPKRVYYLSLEFYMGRTLQNTMIN
LGLQNACDEAIYQLGLDIEELEEIEEDAGLGNGGLGRLAACFLDSMATLGLAAYGYGI
RYEYGIFNQKIRDGWQVEEADDWLRYGNPWEKSRPEFMLPVHFYGKVEHTNTGTKWID
TQVILALPYDTPEPGYMNNTVNTMRLWSARAPNDFNLRDFNVGDYIQAVLDRNLAENI
SRVLYPNDNFFEGKELRLKQEYFVVAATLQDIIRRFKASKFGSTRGAGTVFDAFPDQV
AIQLNDTHPALAIPELMRIFVDIEKLPWSKAWELNQKTFAYTNHTVLPEALERWPVDL
VEKLLPRHLEIIYEINQKHLDRIVALFPKDVDRLRRMSLIEEEGSKRINMAHLCIVGS
HAVNGVAKIHSDIVKTKVFKDFSELEPDKFQNKTNGITPRRWLLLCNPGLAELIAEKI
GEDYVKDLSQLTKLHSFLGDDVFLRELAKVKQENKLKFSQFLETEYKVKINPSSMFDV
QVKRIHEYKRQLLNCLHVITMYNRIKKDPKKLFVPRTVIIGGKAAPGYHMAKMIIKLI
TSVADVVNNDPMVGSKLKVIFLENYRVSLAEKVIPATDLSEQISTAGTEASGTGNMKF
MLNGALTIGTMDGANVEMAEEAGEENLFIFGMSIDDVAALDKKGYEAKEYYEALPELK
LVIDQIDNGFFSPKQPDLFKDIINMLFYHDRFKVFADYEAYVKCQDKVSQLYMNPKAW
NTMVLKNIAASGKFSSDRTIKEYAQNIWNVEPSDLKISLSNESNKVNGN"
BASE COUNT 729 a 594 c 646 g 575 t
ORIGIN
1 atgggcgaac cgctgacaga ccaggagaag cggcggcaga tcagcatccg cggcatcgtg
61 ggcgtggaga acgtggcaga gctgaagaag agtttcaacc ggcacctgca cttcacgctg
121 gtcaaggacc gcaacgtggc caccacccgc gactactact tcgcgctggc gcacacggtg
181 cgggaccacc tggtggggcg ctggatccgc acgcagcagc actactacga caagtgcccc
241 aagagggtat attacctctc tctggaattt tacatgggcc gaacattaca gaacaccatg
301 atcaacctcg gtctgcaaaa tgcctgtgat gaggccattt accagcttgg attggatata
361 gaagagttag aagaaattga agaagatgct ggacttggca atggtggtct tgggagactt
421 gctgcctgct tcttggattc catggcaacc ctgggacttg cagcctatgg atacggcatt
481 cggtatgaat atgggatttt caatcagaag atccgagatg gatggcaggt agaagaagca
541 gatgattggc tcagatatgg aaacccttgg gagaagtccc gcccagaatt catgctgcct
601 gtgcacttct atggaaaagt agaacacacc aacaccggga ccaagtggat tgacactcaa
661 gtgatcctgg ctctgccata tgacaccccc gagcccggct acatgaataa cactgtcaac
721 accatgcgcc tctggtctgc tcgggcacca aatgacttta acctcagaga ctttaatgtt
781 ggagactaca ttcaggctgt gctggaccga aacctggccg agaacatctc ccgggtcctc
841 tatcccaatg acaatttttt tgaagggaag gagctaagat tgaagcagga atactttgtg
901 gtggctgcaa ccttgcaaga tatcatccgc cgtttcaaag cctccaagtt tggctccacc
961 cgtggtgcag gaactgtgtt tgatgccttc ccggatcagg tggccatcca gctgaatgat
1021 actcaccctg cactcgcgat ccctgagctg atgaggattt ttgtggatat tgaaaaactg
1081 ccctggtcca aggcatggga gctcaaccag aagaccttcg cctacaccaa ccacacagtg
1141 ctcccggaag ccctggagcg ctggcccgtg gacctggtgg agaagctgct ccctcgacat
1201 ttggaaatca tttatgagat aaatcagaag catttagata gaattgtggc cttgtttcct
1261 aaagatgtgg accgtctgag aaggatgtct ctgatagaag aggaaggaag caaaaggatc
1321 aacatggccc atctctgcat tgtcggttcc catgctgtga atggcgtggc taaaatccac
1381 tcagacatcg tgaagactaa agtattcaag gacttcagtg agctagaacc tgacaagttt
1441 cagaataaaa ccaatgggat cactccaagg cgctggctcc tactctgcaa cccaggactt
1501 gcagagctca tagcagagaa aattggagaa gactatgtga aagacctgag ccagctgacg
1561 aagctccaca gcttcctggg tgatgatgtc ttcctccggg aactcgccaa ggtgaagcag
1621 gagaataagc tgaagttttc tcagttcctg gagacggagt acaaagtgaa gatcaaccca
1681 tcctccatgt ttgatgtcca ggtgaagagg atacatgagt acaagcgaca gctcttgaac
1741 tgtctgcatg tgatcacgat gtacaaccgc attaagaaag accctaagaa gttattcgtg
1801 ccaaggacag ttatcattgg tggtaaagct gccccaggat atcacatggc caaaatgatc
1861 ataaagctga tcacttcagt ggcagatgtg gtgaacaatg accctatggt tggaagcaag
1921 ttgaaagtca tcttcttgga gaactacaga gtatctcttg ctgaaaaagt cattccagcc
1981 acagatctgt cagagcagat ttccactgca ggcaccgaag cctcggggac aggcaatatg
2041 aagttcatgc taaatggggc cctaactatc gggaccatgg atggggccaa tgtggaaatg
2101 gcagaagaag ctggggaaga gaacctgttc atctttggca tgagcataga tgatgtggct
2161 gctttggaca agaaagggta cgaggcaaaa gaatactatg aggcacttcc agagctgaag
2221 ctggtcattg atcaaattga caatggcttt ttttctccca agcagcctga cctcttcaaa
2281 gatatcatca acatgctatt ttatcatgac aggtttaaag tctttgcaga ctacgaagcc
2341 tatgtcaagt gtcaagataa agtgagtcag ctgtacatga atccaaaggc ctggaacaca
2401 atggtactca aaaacatagc tgcctcgggg aaattctcca gtgaccgaac aattaaagaa
2461 tatgcccaaa acatctggaa cgtggaacct tcagatctaa agatttctct atccaatgaa
2521 tctaacaaag tcaatggaaa ttga
//