BioMed Research International

Review Article

The Sarcomeric M-Region: A Molecular Command Center for Diverse Cellular Processes

Table 3

Proteins with enzymatic activity at the M-region and related diseases.
ProteinMutationEffectDiseaseReference
β-EnolaseG156N
G374E		UnknownGSD XIII[248]
MuRF1S5LUnknownHCM[249]
MuRF1F73SUnknownHCM[249]
MuRF1R86C/HUnknownHCM[249]
MuRF1I101FUnknownHCM[249]
MuRF1T232MUnknownHCM[249]
MuRF1E299StopUnknownHCM[249]
MuRF1M305IUnknownHCM[249]
MuRF1A318DUnknownHCM[249]
MuRF2C50YUnknownHCM[249]
MuRF2P79AUnknownHCM[249]
MuRF2Q187fsUnknownHCM[249]
MuRF2L241MUnknownHCM[249]
MuRF2S252FUnknownHCM[249]
MuRF2E371fsUnknownHCM[249]
MuRF2P392TUnknownHCM[249]
MuRF2K425NUnknownHCM[249]
MuRF2A488TUnknownHCM[249]
MuRF2T506SUnknownHCM[249]
MuRF2H523WUnknownHCM[249]
MuRF2F538fsUnknownHCM[249]
MuRF3P9LUnknownHCM[249]
MuRF3G94CUnknownHCM[249]
MuRF3P115SUnknownHCM[249]
MuRF3L163PUnknownHCM[249]
MuRF3A221VUnknownHCM[249]
MuRF3R249QUnknownHCM[249]
MuRF3R269HUnknownHCM[249]
MuRF3K270NUnknownHCM[249]
MuRF3P346TUnknownHCM[249]
MuRF3G373DUnknownHCM[249]
PFKR39P/LUnknownGSD VII[250, 251]
PFKG57VUnknownGSD VII[252]
PFKG80fs4XUnknownGSD VII[252]
PFKR95StopUnknownGSD VII[253]
PFKR100QUnknownGSD VII[254]
PFKS108CUnknownGSD VII[252]
PFKG209DUnknownGSD VII[254]
PFKN309GUnknownGSD VII[255]
PFKD543AUnknownGSD VII[250]
PFKD591AUnknownGSD VII[252]
PFKP668QUnknownGSD VII[251]
PFKW686CUnknownGSD VII[254]
PFKR696HUnknownGSD VII[251]
PFK78 bp del exon 5 UnknownGSD VII[254]
PFK5 or 12 bp del exon 7UnknownGSD VII[250]
PFK75 bp del exon 15UnknownGSD VII[256]
PFKRetention of intron 13, truncated proteinUnknownGSD VII[257]
PFKRetention of intron 16, truncated proteinUnknownGSD VII[257]
PFK169 bp del exon 19UnknownGSD VII[258]
Note: nomenclature refers to the canonical full-length human isoforms; beta-enolase, NP_001967.3, MuRF1, NP_115977.2, MuRF2, Q9BYV6.2, MuRF3, NP_912730.2, PFK, and NP_000280.1. HCM: hypertrophic cardiomyopathy; GSD: glycogen storage disease.