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Table 1 Proteins/genes associated with HCM

From: High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort

Protein Gene OMIM ID Reference sequence(a) Mutations Known(b)/prevalence(c)
Sarcomeric Proteins
Cardiac myosin-binding protein C(d) MYBPC3 600958 NM_000256 294/~40
β-cardiac myosin heavy chain(d) MYH7 160760 NM_000257 335/~40
Cardiac Troponin T(d) TNNT2 191045 NM_000364 60/~5
Cardiac Troponin I(d) TNNI3 191044 NM_000363 50/~5
Regulatory myosin light chain MYL2 160781 NM_000432 13/~1
α-Tropomyosin(d) TPM1 191010 NM_0001018005 24/~2
Cardiac actin ACTC1 102540 NM_005159 18/~1
Essential myosin light chain MYL3 160790 NM_000258 11/~1
Cardiac Troponin C TNNC1 191040 NM_003280 12/rare
α-myosin heavy chain MYH6 160710 NM_002471 22/rare
Titin TTN 188840 NM_133378 20/rare
Obscurin OBSCN 608616 NM_052843 1/rare
Desmin DES 125660 NM_001927 1/rare
Caveolin 3 CAV3 601253 NM_033337 1/rare
Z-band
Muscle LIM protein (MLP) CSRP3 600824 NM_003476 12/?
Telethonin TCAP 604488 NM_003673 11/?
Myozenin 2 MYOZ2 605602 NM_016599 2/?
Vinculin VCL 193065 NM_014000 1/?
Calcium-Handling HCM
Junctophilin 2 JPH2 605267 NM_020433 4/?
Phospholamban PLN 172405 NM_002887 8/?
Myosin Light Chain Kinase 2 MYLK2 606566 NM_033118 2/?
Calsequestrin 2 CASQ2 114251 NM_001232 1/?
Other non-sarcomeric proteins     
Myosin VI MYO6 600970 NM_004999 1/?
Solute carrier family 25 member 4 SLC25A4 103220 NM_001151 1/?
Cytochrome C oxidase assembly protein 15 COX15 603646 NM_078476 2/?
HCM Phenocopies     
2 subunit of AMP-activated protein kinase PRKAG2 602743 NM_016203 10/?
V-raf-1 murine leukemia viral oncogene homolog 1 RAF1 164760 NM_002880 1/?
Frataxin FXN 606829 NM_000144 1/?
Lysosome associated membrane 1 LAMP2 309060 NM_002294.2 1/?
  1. These include the sarcomeric proteins, Z-band, calcium-handling, mitochondria, HCM phenocopies and other non-sarcomeric proteins whose mutations have been associated with HCM. The OMIM, Reference sequence(a), number of HCM-associated mutations known(b) and prevalence of mutations(c) are also indicated
  2. (a) UCSC Genome Browser http://genome.ucsc.edu/cgi-bin/hgGateway; (b) Human Genome Mutation Database http://www.hgmd.org and Harvard Sarcomere mutation Database http://genepath.med.harvard.edu/~seidman/cg3/;(c) [1]; (d) Clinical Genetic Test available in Portugal