In Depth Variant Analysis: c.604A>G (p.Arg202Gly)
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c.604A>G
p.Arg202Gly (Legacy AA No. 184)
Variant Type:
Point
Domain:
Apple 3
Codon Change:
A>G
Variant Effect:
Missense
No. of Patients Reported:
2
Phenotype:
II
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Transfection experiments of Arg202Gly-FXI show a 70% reduction in FXI activity, suggesting the Arg202Gly mutation might represent a CRM+ defect. Guella et al 2008Residue Information:
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Substitution Analysis:
Structural Implications:
Arg202 is a buried residue (surface accessibility value = 1 ).
Arg202 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
Arg202 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
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