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Structural Implications of β‐Cardiac Myosin Heavy Chain Mutations in Human Disease
Author(s) -
Colegrave Melanie,
Peckham Michelle
Publication year - 2014
Publication title -
the anatomical record
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.678
H-Index - 62
eISSN - 1932-8494
pISSN - 1932-8486
DOI - 10.1002/ar.22973
Subject(s) - myosin , heavy chain , point mutation , mutation , mutant , sequence (biology) , genetics , biology , disease , human disease , function (biology) , computational biology , gene , microbiology and biotechnology , medicine
Over 500 disease‐causing point mutations have been found in the human β‐cardiac myosin heavy chain, many quite recently with modern sequencing techniques. This review shows that clusters of these mutations occur at critical points in the sequence and investigates whether the many studies on these mutants reveal information about the function of this protein. Anat Rec, 297:1670–1680, 2014. © 2014 Wiley Periodicals, Inc.