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].
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 |