In Depth Variant Analysis: c.599G>A (p.Cys200Tyr)
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c.599G>A
p.Cys200Tyr (Legacy AA No. 182)
Variant Type:
Point
Domain:
Apple 3
Codon Change:
G>A
Variant Effect:
Missense
No. of Patients Reported:
2
Phenotype:
U
Allele Count *:
10
Allele Number *:
251312
Allele Frequency *:
0.000040
Variant Comments & Reference:
Bolton-Maggs et al 2003 (Abstract), Duncan et al 2008Residue Information:
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Substitution Analysis:
Structural Implications:
Cys200 is a buried residue (surface accessibility value = 0 ).
Cys200 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
Cys200 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
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