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Table 2 clinical phenotype and position or the function in the actin structure of mutations which were biochemically characterized in Costa et al. 2004 [12].

From: Phenotypes induced by NM causing α-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes

Mutation Phenotype Position or Function in Actin Structure
N115S typical, NEM Buried, near nucleotide cleft
M132V mild, NEM Buried
G182D typical, NEM in nucleotide cleft
R183C severe, NEM H-bonds for nucleotide cleft closure
R183G typical./severe, NEM H-bonds for nucleotide cleft closure
Q263L severe, NEM Surface, near hydrophobic plug
G268C mild/typical. NEM F-actin contact, hydrophobic pocket
I357L Severe, NEM, IRM buried
  1. NEM = nemaline myopathy, sarcoplasmic nemaline bodies; IRM = intranuclear rod myopathy.