Table 1

Proteins/genes associated with HCM

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/?


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

(a) UCSC Genome Browser http://genome.ucsc.edu/cgi-bin/hgGateway webcite; (b) Human Genome Mutation Database http://www.hgmd.org webcite and Harvard Sarcomere mutation Database http://genepath.med.harvard.edu/~seidman/cg3/ webcite;(c) [1]; (d) Clinical Genetic Test available in Portugal

Santos et al. BMC Medical Genetics 2012 13:17   doi:10.1186/1471-2350-13-17

Open Data