Project 3 > Mutation Database > MYBPC3 mutations > Asp228Asn

The Asp228Asn mutation of human cardiac Myosin-Binding Protein C

(other names:  D228N)

SEQUENCE
exon 7
nucleotide change g>a
nucleotide pos. in gene 5166
UCSC Golden Path position 47326641
charge change  
codon change gat>aat
transcript change missense
translation change  


mutated amplimer sequence:
ctggagctcctggtcttatgtgatccgcccgcctcagcctcccaaagtgg
ggattacaggcctgagccaccgcgcccggccactcccagtctcctttaag
ggtgcggagccttgtctcccggcccctggtgtcccctgacgccccgtccc
tccatgcacacaggtctatctgttcgagctgcacatcaccAatgcccagc
ctgccttcactggcagctaccgctgtgaggtgtccaccaaggacaaattt
gactgctccaacttcaatctcactgtccacggtgagggggccctggtgtc
tgtcctgggctcgggctccccatgggtcctggtctcctacctccttttcc
caacactaaggaggatgcctcgtcccatccagacatgagtgctggccacg
tgcccagtgctgcacacacagggtgtgagagaaaccccaaggcttgcagg
gtaggcgtgggggcttagggctgagtccgggtctcatctgggtgggactc
tgttttatcatcttggtgtcacggctcc


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Andersen PS, Havndrup O, Bundgaard H, Moolman-Smook JC, Larsen LA, Mogensen J, Brink PA, Borglum AD, Corfield VA, Kjeldsen K, Vuust J, Christiansen M.
    Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations.
    J Med Genet. 2001 Dec;38(12):E43. (PubMed:11748309)
  2. Andersen PS, Havndrup O, Bundgaard H, Larsen LA, Vuust J, Pedersen AK, Kjeldsen K, Christiansen M.
    Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.
    Eur J Hum Genet 2004 Aug;12(8):673-7. (PubMed:15114369)
 

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Last modified: April 24, 2006