MYBPC3 mutation Pro161Ser

The Pro161Ser mutation of human cardiac Myosin-Binding Protein C

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	5
nucleotide change	C>T
nucleotide pos. in gene	3643
UCSC Golden Path position	47328165
charge change
codon change
transcript change
translation change

mutated amplimer sequence:
gggcacctgcggtcccagctaacttgggaggctgaggcaggagaatggtg
tgaacctgggaggcggagcttgcagtgagccgagattgtgcctctgcact
ccagcctgggtgacagagcaagactccatctcaaacaaacagaaaaagcc
tttgctcacagggtcaagctcagcagctctcaatggtcctacccctggag
cccccgatgaccccattggcctcttcgtgatgcggTcacaggatggcgag
gtgaccgtgggtgagtgtgagctgctgtgcccagcattggggtgggaagg
gggggcagcaggacactccccaagccgggcctgtcgccctgcctttgcag
gtggcagcatcaccttctcagcccgcgt

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Alders M, Jongbloed R, Deelen W, van den Wijngaard A, Doevendans P, Ten Cate F, Regitz-Zagrosek V, Vosberg HP, van Langen I, Wilde A, Dooijes D, Mannens M.
The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.
Eur Heart J 2003 Oct;24(20):1848-53. (PubMed:14563344)
- Not found in 200 control chroms (Dutch).

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Last modified: April 24, 2006