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Table 1.

The congenital myopathy mutations investigated in this study

Mutation Phenotype Lethality Type of mutation Position or function in actin structure*,† ABP prediction
G15R   AM   3 months   De novo   ATP-binding   
H40Y   Severe, NEM, IRM   2 months   De novo   F-Actin contact, hydrophobic pocket   Myosin, DNase I, thymosin β4*  
I64N   Typical, NEM   Alive 8 years, 48 years   Dominant   F-Actin contact, hydrophobic pocket   DNase I*  
L94P   Severe, NEM   5 days, 19 days with G259V   Recessive   Buried   
N115S   Typical, NEM   Alive 33 years, 18 years, 3 years   Dominant   Buried, near nucleotide cleft   α-Actinin  
M132V   Mild, NEM   Alive 39 years, 9 years   ?   Buried   
I136M   Mild, NEM   Alive 45 years   ?   Hinge region   
V163L   AM, IRM   Alive 5 months, 4 months   De novo   Buried, near nucleotide cleft   CAP 
G182D   Typical, NEM   Alive 3 years   De novo   In nucleotide cleft   CAP 
R183C   Severe, NEM   1 day, 4 days   Dominant   Hydrogen bonds for nucleotide cleft closure   
R183G   Typical/severe, NEM   13 months, 1 year   De novo   Hydrogen bonds for nucleotide cleft closure   Tropomodulin§ 
G259V   Severe, NEM   5 days, 19 days with L94P   Recessive   Buried   
Q263L   Severe, NEM   Alive 21 months   Dominant   Surface, near hydrophobic plug   
G268C   Mild/typical NEM   Alive 10 years, 7 years   De novo   F-Actin contact, hydrophobic pocket   
G268R   Severe, NEM   Alive 5 years   ?   F-Actin contact, hydrophobic pocket   
N280K   Severe, NEM   9 months   De novo   Surface near F-actin contact   DBP  
D286G   Severe, NEM   9 months   De novo   F-actin contact along the strands and hydrophobic pocket   Profilin  
I357L   Severe, NEM, IRM   6 months   De novo   ?   α-Actinin, nebulin, tropomyosin  
V370F   Severe, NEM   Alive 4 months   De novo   ?   α-Actinin, tropomyosin, DBP, myosin  
Mutation Phenotype Lethality Type of mutation Position or function in actin structure*,† ABP prediction
G15R   AM   3 months   De novo   ATP-binding   
H40Y   Severe, NEM, IRM   2 months   De novo   F-Actin contact, hydrophobic pocket   Myosin, DNase I, thymosin β4*  
I64N   Typical, NEM   Alive 8 years, 48 years   Dominant   F-Actin contact, hydrophobic pocket   DNase I*  
L94P   Severe, NEM   5 days, 19 days with G259V   Recessive   Buried   
N115S   Typical, NEM   Alive 33 years, 18 years, 3 years   Dominant   Buried, near nucleotide cleft   α-Actinin  
M132V   Mild, NEM   Alive 39 years, 9 years   ?   Buried   
I136M   Mild, NEM   Alive 45 years   ?   Hinge region   
V163L   AM, IRM   Alive 5 months, 4 months   De novo   Buried, near nucleotide cleft   CAP 
G182D   Typical, NEM   Alive 3 years   De novo   In nucleotide cleft   CAP 
R183C   Severe, NEM   1 day, 4 days   Dominant   Hydrogen bonds for nucleotide cleft closure   
R183G   Typical/severe, NEM   13 months, 1 year   De novo   Hydrogen bonds for nucleotide cleft closure   Tropomodulin§ 
G259V   Severe, NEM   5 days, 19 days with L94P   Recessive   Buried   
Q263L   Severe, NEM   Alive 21 months   Dominant   Surface, near hydrophobic plug   
G268C   Mild/typical NEM   Alive 10 years, 7 years   De novo   F-Actin contact, hydrophobic pocket   
G268R   Severe, NEM   Alive 5 years   ?   F-Actin contact, hydrophobic pocket   
N280K   Severe, NEM   9 months   De novo   Surface near F-actin contact   DBP  
D286G   Severe, NEM   9 months   De novo   F-actin contact along the strands and hydrophobic pocket   Profilin  
I357L   Severe, NEM, IRM   6 months   De novo   ?   α-Actinin, nebulin, tropomyosin  
V370F   Severe, NEM   Alive 4 months   De novo   ?   α-Actinin, tropomyosin, DBP, myosin  

The mutations selected for this study induce different phenotypes and symptoms in patients. All data were taken from Sparrow et al. (Sparrow et al., 2003), which summarizes data from other articles (Nowak et al., 1999; Ilkovski et al., 2001), with the exception of those marked as follows: *Kabsch et al., 1990; Holmes et al., 1990; Rommelaere et al., 2003; §Krieger et al., 2002. Where more than one age is given, this refers to multiple patients.

Abbreviations: AM, actin myopathy, excess of thin filaments; CAP, cyclase-associated protein; DBP, vitamin-D-binding protein; IRM, intranuclear rod myopathy; NEM, nemaline myopathy, sarcoplasmic nemaline bodies.

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