LOCUS       S72312                    60 bp    mRNA    linear   HUM 26-JUL-2016
DEFINITION  phosphofructokinase-M=2.7.1.11 {exon 22} [human, Ashkenazi Jewish
            patient, mRNA Partial Mutant, 60 nt].
ACCESSION   S72312
VERSION     S72312.1
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 60)
  AUTHORS   Sherman,J.B., Raben,N., Nicastri,C., Argov,Z., Nakajima,H.,
            Adams,E.M., Eng,C.M., Cowan,T.M. and Plotz,P.H.
  TITLE     Common mutations in the phosphofructokinase-M gene in Ashkenazi
            Jewish patients with glycogenesis VII--and their population
            frequency
  JOURNAL   Am. J. Hum. Genet. 55 (2), 305-313 (1994)
   PUBMED   8037209
  REMARK    GenBank staff at the National Library of Medicine created this
            entry [NCBI gibbsq 152007] from the original journal article.
FEATURES             Location/Qualifiers
     source          1..60
                     /db_xref="H-InvDB:HIT000216422"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /note="from Ashkenazi Jewish patient"
     gene            <1..60
                     /gene="phosphofructokinase-M, PFK-M"
     CDS             <1..60
                     /gene="phosphofructokinase-M, PFK-M"
                     /EC_number="2.7.1.11"
                     /note="conceptual translation differs from the translation
                     presented in the manuscript (15[W->V]); PFK-M"
                     /codon_start=1
                     /product="phosphofructokinase-M"
                     /protein_id="AAB31343.2"
                     /translation="GGSQPHLIGILPLRWAPRL"
BASE COUNT           16 a           13 c           18 g           13 t
ORIGIN      
        1 ggtgggagcc aaccccattt gataggaatt ttgccactaa gatgggcgcc aaggctatga
//