In Depth Variant Analysis: c.1682G>A (p.Ala561Asp)
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c.1682G>A
p.Ala561Asp (Legacy AA No. 543)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
G>A
Variant Effect:
Missense
No. of Patients Reported:
2
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Damaging effect on FXI structure. Tiscia et al 2017Residue Information:
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Substitution Analysis:
Structural Implications:
Ala561 is a buried residue (surface accessibility value = 0 ).
Ala561 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Ala561 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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