MYBPC3 mutation Asp75fs

The Asp75fs mutation of human cardiac Myosin-Binding Protein C

(other names: D75fs)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	3
nucleotide change	del CCAGGGA
nucleotide pos. in gene	2376..2382
UCSC Golden Path position	47329433..47329427
charge change
codon change
transcript change	Frameshift/ter in exon 2
translation change

mutated amplimer sequence:
gtgcacgctccaaccaggggccgctgtagcctccacctggcccttcagtc
tcagcttttagcaagaagccacggtcagtggaagtggccgcaggcagccc
tgccgtgttcgaggccgagacagagcgggcaggagtgaaggtgcgctggc
agcgcggaggcagtgacatcagcgccagcaacaagtacggcctggccaca
gagggcacacggcatacgctgacagtgcgggaagtgggccctgccgATct
tacgcagtcattgctggctcctccaaggtcaagttcgacctcaaggtcat
agaggcaggtaagatcctgatcagccttccctgaggtttgggctgctggg
ggaggggcagcccagcgactctccatccatccagggaacaggaggtgctt
tcacactttcttgcctttgctg

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

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Last modified: April 24, 2006