[bionet.molbio.genbank.updates] Human beta cardiac myosin heavy chain gene, exon 13.

GenBank-Updates@genbank.bio.net (02/07/91)

LOCUS       HUMMHCB13     134 bp ds-DNA             PRI       07-FEB-1991
DEFINITION  Human beta cardiac myosin heavy chain gene, exon 13.
ACCESSION   M57243
KEYWORDS    beta cardiac myosin heavy chain.
SOURCE      Human DNA.
  ORGANISM  Homo sapiens
            Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia;
            Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE   1  (bases 1 to 134)
  AUTHORS   Geisterfer-Lowrance,A.A., Kass,S., Tanigawa,G., Vosberg,H.-P.,
            McKenna,W., Seidman,C.E. and Seidman,J.G.
  TITLE     A molecular basis for familial hypertrophic cardiomyopathy: A beta
            cardiac myosin heavy chain gene missense mutation
  JOURNAL   Cell 62, 999-1006 (1990)
  STANDARD  simple staff_entry
COMMENT     Mutation in exon 13 of beta cardiac myosin heavy chain.
FEATURES             Location/Qualifiers
     exon            6..124
                     /number=13
                     /codon_start=6
                     /product="cardiac myosin heavy chain beta isoform"
     mutation        75..75
                     /note="Arg 403 to Glu"
                     /product="cardiac myosin heavy chain beta isoform"
BASE COUNT       30 a     37 c     43 g     24 t
ORIGIN
        1 tccagaggct gacaagtctg cctacctcat ggggctgaac tcagccgacc tgctcaaggg
       61 gctgtgccac cctcgggtga aagtgggcaa tgagtacgtc accaaggggc agaatgtcca
      121 gcaggtgggt ccat
//