MYBPC3 mutation Gln208His

The Gln208His mutation of human cardiac Myosin-Binding Protein C

(other names: Q208H)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	6
nucleotide change	g>c
nucleotide pos. in gene	3876
UCSC Golden Path position	47327931
amino acid change	Gln>His
charge change	+1
codon change	cag>cac
transcript change	missense
translation change	substitution, non-conservative

mutated amplimer sequence:
ctacccctggagcccccgatgaccccattggcctcttcgtgatgcggcca
caggatggcgaggtgaccgtgggtgagtgtgagctgctgtgcccagcatt
ggggtgggaagggggggcagcaggacactccccaagccgggcctgtcgcc
ctgcctttgcaggtggcagcatcaccttctcagcccgcgtggccggcgcc
agcctcctgaagccgcctgtggtcaagtggttcaagggcaaatgggtgga
cctgagcagcaaggtgggccagcacctgcaCctgcacgacagctacgacc
gcgccagcaaggtgggtccaccggggtcgtggagacacggagagagggga
catggagagccctagaaggcacaaggcacacagagggcaccatgagaccc
agaggcacacacgagctgcaagcaaggggtgtggggaatctgggaggca

**RESTRICTION ENZYME**
no information

disease	HCM

Date this novel mutation was originally posted on this website: 4/15/2005

References and comments

Merk, Seidman et al., 2005. (this study)

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Last modified: April 24, 2006