LOCUS HSU85773 2302 bp mRNA linear HUM 25-JUN-1997
DEFINITION Human phosphomannomutase (PMM2) mRNA, complete cds.
ACCESSION U85773
VERSION U85773.1
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 2302)
AUTHORS Matthijs,G., Schollen,E., Pardon,E., Veiga-Da-Cunha,M., Jaeken,J.,
Cassiman,J.J. and Van Schaftingen,E.
TITLE Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13,
in carbohydrate-deficient glycoprotein type I syndrome (Jaeken
syndrome)
JOURNAL Nat. Genet. 16 (1), 88-92 (1997)
PUBMED 9140401
REFERENCE 2 (bases 1 to 2302)
AUTHORS Matthijs,G., Schollen,E. and Van Schaftingen,E.
TITLE Direct Submission
JOURNAL Submitted (17-JAN-1997) Center for Human Genetics, University of
Leuven, Gasthuisberg ON6, Leuven B-3000, Belgium
FEATURES Location/Qualifiers
source 1..2302
/db_xref="H-InvDB:HIT000221955"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="16"
/map="16p13; near D16S406"
gene 1..2302
/gene="PMM2"
CDS 49..789
/gene="PMM2"
/note="phosphomannomutase activity is deficient in
patients with the carbohydrate-deficient glycoprotein
syndrome type I (CDG1)"
/codon_start=1
/product="phopshomannomutase"
/protein_id="AAC51368.1"
/translation="MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVV
GGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINY
CLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVAD
LRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDH
EIFTDPRTMGYSVTAPEDTRRICELLFS"
BASE COUNT 583 a 596 c 611 g 512 t
ORIGIN
1 gttcctcgtg ccaacgtgtc ttgtaaggtg cggctagaaa ctggggacat ggcagcgcct
61 ggcccagcgc tctgcctctt cgacgtggat gggaccctca ccgccccgcg gcagaaaatt
121 accaaagaaa tggatgactt cctacaaaaa ttgaggcaga agatcaaaat cggagtggta
181 ggcggatcgg actttgagaa agtgcaggag caactgggaa atgatgtggt tgaaaaatac
241 gattatgtgt ttccagaaaa tggcttggta gcatacaaag atgggaaact cttgtgtaga
301 cagaatattc aaagtcatct gggtgaggcc ctaatccaag atttaatcaa ctactgtctg
361 agctacattg cgaaaattaa actcccgaag aagaggggta ctttcattga attccgaaat
421 gggatgttaa acgtgtcccc tattggaaga agctgcagcc aagaagaacg cattgagttc
481 tacgaactcg ataaaaaaga aaatataaga caaaagtttg tagcagatct acggaaagag
541 tttgctggaa aaggcctcac gttttccata ggaggccaga tcagctttga tgtctttcct
601 gatggatggg acaagagata ctgtctgcga catgtggaaa atgacggtta taagaccatt
661 tatttctttg gagacaaaac tatgccaggt ggcaatgacc atgagatctt cacagacccc
721 agaaccatgg gctactccgt gacagcgcct gaggacacgc gcaggatctg tgaactgctg
781 ttctcctaac gtgggagcgg gaggggcggg gtcccggctg acaagcagca tagggcattc
841 ggtggccaga gccgagggtc ctcccacacg tgctcaccca cccgcagcct aggcaggctc
901 tgcatgctat gccaggcatg tgccgtctgg acttccacct ccagtgccag aaacttccag
961 aaagaaggag aaactcttgt caagaatggc ccagaggaat gcctcgcaca aaaggtcttc
1021 cccacccacc cccagccccc tagtctaata cccaccctga tacgtgcaat catgtagttt
1081 tggcggaaat ttccccatca ttctaggatg atacagaaag aaaactgtgc ctggaccctc
1141 cctcttggtg ggtctgtgga aacataagcg gtttttttaa tgggcccctg catcaatacc
1201 aaacatgggg gtttggtaat gagaaaccag gacaggccat ctgcagtgac ccagcccagg
1261 acgaagttta caaacacctc ctggaacgaa gctcccgcct gcatgtcacc ttgatggggg
1321 ctgtgagtgg ggcagtgtga tacccagtga ctagacgcac tctgcgtttt cccgtgtttg
1381 gggctgaggc ctgctggaca gatggctggc caagtgggag cagaccctag ggagtttgca
1441 cctcggctgg gccggattcg gaccggctct gtgttcacta cactcagaat agcctgctgc
1501 ttctctgtct ccgagaccgg agtacttggg aacaacagct gggctggaga gttggtgctg
1561 gcaaaacagt ccttcccctg gggccggttc ttacccaggt ccagagaaac caacgcggga
1621 tgtcagactt caccaaaagg actttctggt tgcccctggc tggcttcctg gaggcgttcg
1681 cctctagttt ctcagggatg gagcgagagc ccagccagag aacagtaaga ggagctgctc
1741 tcctatctgc actcacccag gccttcaccc agactttacc gcggaggcgg ctgagtgcag
1801 ctacagctag gtccgcgtcc ctcactcttt tcatcttctg cacgttcttc gtgaaactgg
1861 aaggatcccg ggtctcagct agaacacggt ggaagagaac tttcctagga aacggttcat
1921 gtgtcacttt tcaggatgtg gaaacactga gccatacacc ctccattgct tggtgctggg
1981 gttgtgtggc ctccactggg cacttgccga cctgagtctg gggccagggg agcccaggct
2041 gccctgcact cctgcctccc agcccacagc caggtgcttt catcacagct aaacctggtt
2101 ccctccaaac ctcccagcca ctcgggcttg taactgtctg agccccggat ccggtggggt
2161 gaaagcagcc agctcatccc agtgactcac aggacacagc catccagcgg catctttcct
2221 tgtcgaatga tactgtaatg accttccaaa gtgaagagta gcacattaaa gtgattttat
2281 tgtttaaaaa aaaaaaaaaa aa
//