Project 3 > Mutation Database > MYH7 mutations > Ser148Ile

The Ser148Ile mutation of human beta-cardiac Myosin Heavy Chain

(other names:  S148I)

SEQUENCE
exon 5
nucleotide change G>T
nucleotide pos. in gene 6754
UCSC Golden Path position
amino acid changeSer>Ile
charge change 0
codon change AGC>ATC
transcript change missense
translation change substitution, non-conservative


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Mohiddin SA, Begley DA, McLam E, Cardoso JP, Winkler JB, Sellers JR, Fananapazir L.
    Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations.
    Genet Test 2003 Spring;7(1):21-7. (PubMed:12820698)
 

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Last modified: April 24, 2006