Project 3 > Mutation Database > MYBPC3 mutations > Glu441Lys

The Glu441Lys mutation of human cardiac Myosin-Binding Protein C

(other names:  E441K)

SEQUENCE
exon 16
nucleotide change G>A
nucleotide pos. in gene 10598
UCSC Golden Path position 47321178
amino acid changeGlu>Lys
charge change +2
codon change GAG>AAG
transcript change missense
translation change substitution, non-conservative


mutated amplimer sequence:
aacacttcaacggccccttctgttctacagcaagtaagttcccctctgga
tggcttggggtggggggcacagggattatcacggggcgcactgggcccgg
aggggtgtccgcagctttcctgccacttccctgcggcccccacccaggta
catctttgagtccatcggtgccaagcgtaccctgaccatcagccagtgct
cattggcggacgacgcagcctaccagtgcgtggtgggtggcAagaagtgt
agcacggagctctttgtgaaaggtgggcctgggacctgaggatgtgggaa
cctggggaggagatggcctcaggggagccaaccctcatgctcaccctgcc
tggacagagccccctgtgctcatcacgcgccccttggaggaccagctggt
gatggtggggcagcgggtggagtttgagtgtgaagtatcggaggaggggg
c


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Merk, Seidman et al., 2005. (this study)
 

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Last modified: April 24, 2006