In Depth Variant Analysis:  c.1077A>G (p.Ile359Met)
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c.1077A>G
p.Ile359Met (Legacy AA No. 341)
Variant Type:  
Point
Domain:  
Apple 4
Codon Change: 
A>G
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
1
Allele Number *: 
251412
Allele Frequency *: 
0.000004
Variant Comments & Reference:
Ile359 is one of several residues involved in the non-covalent interactions between two Ap4 domains in a FXI dimer. Saunders et al 2009Residue Information:
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Substitution Analysis:
Structural Implications:
Ile359 is a buried residue  (surface accessibility value = 0 ).
Ile359 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Ile359 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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