In Depth Variant Analysis: c.1545G>T (p.Trp515Cys)
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c.1545G>T
p.Trp515Cys (Legacy AA No. 497)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
G>T
Variant Effect:
Missense
No. of Patients Reported:
4
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Saunders et al 2009, Tiscia et al 2017Residue Information:
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Substitution Analysis:
Structural Implications:
Trp515 is a buried residue (surface accessibility value = 1 ).
Trp515 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Trp515 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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