In Depth Variant Analysis:  c.215G>C (p.Arg72Pro)
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c.215G>C
p.Arg72Pro (Legacy AA No. 54)
Variant Type:  
Point
Domain:  
Apple 1
Codon Change: 
G>C
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Arg72 is part of an elaborated turning loop connecting the fourth and fifth strands. Electrostatic interactions among Arg72, Glu68 and Asp69 help to maintain the loop architecture. The Arg72Pro mutation eliminates these interactions and results in three close Pro residues, making the loop quite rigid and altering its structure and electrostatic surface. Spena et al 2009Residue Information:
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Substitution Analysis:
Structural Implications:
Arg72 is an exposed residue  (surface accessibility value = 3 ).
Arg72 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
Arg72 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
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