Project 3 > Mutation Database > MYL2 mutations > Pro95Ala

The Pro95Ala mutation of human cardiac Regulatory Myosin Light Chain

(other names:  P95A, Pro94Ala, Pro94Arg)

SEQUENCE
exon 5
nucleotide change C>G
nucleotide pos. in gene 7365
UCSC Golden Path position 109813840
amino acid changePro>Ala
charge change 0
codon change CCT>GCT
transcript change missense
translation change substitution, non-conservative


mutated amplimer sequence:
agccttgctctggccccttcatctctgggggaacttgggccctgctgcct
ggggtgccagtggttcccagccacccccagtacatgtaagccctgtgttc
cgtttcaggagcggacGctgaggaaaccattctcaacgcattcaaagtgt
ttgaccctgaaggcaaaggggtgctgaaggctgattagtgagtggggtct
gtgggggaggaagggggttccctgcttgccccctgtcccccctacacaca
cacaactgacaccaacacctgctttcctttctctgcagcgttcgggaaat
gctgaccacgcaggcggagaggttttccaaggaggaggtaatggggtcct
tcaagcactccctctaacccagctcctgggttctccttctggggggctcc
gtctcccctctcgtctaaagcacccctgaccccaca


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Poetter K, Jiang H, Hassanzadeh S, Master SR, Chang A, Dalakas MC, Rayment I, Sellers JR, Fananapazir L, Epstein ND.
    Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.
    Nat Genet 1996 May;13(1):63-9. (PubMed:8673105)
  2. Szczesna D, Ghosh D, Li Q, Gomes AV, Guzman G, Arana C, Zhi G, Stull JT, Potter JD.
    Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation.
    J Biol Chem 2001 Mar 9;276(10):7086-92. Epub 2000 Dec 1. (PubMed:11102452)
  3. Szczesna-Cordary D, Guzman G, Ng SS, Zhao J.
    Familial hypertrophic cardiomyopathy-linked alterations in Ca2+ binding of human cardiac myosin regulatory light chain affect cardiac muscle contraction.
    J Biol Chem 2004 Jan 30;279(5):3535-42. Epub 2003 Nov 1. (PubMed:14594949)
 

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Last modified: April 24, 2006