In Depth Variant Analysis: c.518G>A (p.Gly173Glu)
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c.518G>A
p.Gly173Glu (Legacy AA No. 155)
Variant Type:
Point
Domain:
Apple 2
Codon Change:
G>A
Variant Effect:
Missense
No. of Patients Reported:
3
Phenotype:
II
Allele Count *:
1
Allele Number *:
250424
Allele Frequency *:
0.000004
Variant Comments & Reference:
Functional effect; disturbs proposed FXIa binding loop. Alhaq et al 2000, Mitchell et al 2003, O''Connell et al 2005, Saunders et al 2009Residue Information:
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Substitution Analysis:
Structural Implications:
Gly173 is a buried residue (surface accessibility value = 1 ).
Gly173 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
Gly173 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
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