Table 1 Expression, modification and related diseases of three MyBP-C paralogs.

From: Etiology of genetic muscle disorders induced by mutations in fast and slow skeletal MyBP-C paralogs

 

sMyBP-C

fMyBP-C

cMyBP-C

Gene code and chromosome location in human (mouse)

MYBPC1

Chromosome 12 (10)

MYBPC2

Chromosome 19 (7)

MYBPC3

Chromosome 11 (2)

mRNA and protein size (mouse)

3941 bp and 1127 aa

3610 bp and 1136 aa

4224 bp and 1270 aa

Primary expression tissue

Skeletal and smooth muscles

Fast twitch skeletal muscle

Cardiac muscle

Phosphorylation sites

S59, S62, T84, S20426,109

None

S133, S273, S282, S302, S30713,34

Pathogenic mutations

W236R, Y247H, E248K, L259P, L263R, R318X, P319L, E359K, Y856H24,114,115

T236I, S255T, V307A, F510fs, A1065V110

>500

Related diseases

Distal arthrogryposis type 1b, Lethal congenital contracture syndrome 4,

Congenital myopathy with tremor

Unclassified distal arthrogryposis

HCM

DCM

Left ventricular noncompaction

Phenotypes of knockout animal models

Reduced survival, blunted motor response and severe body curvature (zebrafish)116

Severe functional loss (mouse)28

Reduced force generation, disrupted sarcomere structure and muscle atrophy (zebrafish)117

Reduced muscle function, calcium sensitivity and regenerative capacity (mouse)27

Severe HCM and DCM (mouse)102

  1. Each MyBP-C paralog is encoded in different chromosomes, and the genes are expressed in specific tissues and have distinct phosphorylation profiles. Mutations of each paralog are related to the development of congenital skeletal and cardiac diseases. NCBI Gene ID: Mybpc1 (109272), Mybpc2 (233199), Mybpc3 (17868).
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