In-Depth Variant Analysis: c.307G>C (p.Asp103His)
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c.307G>C
p.Asp103His (Legacy AA No. 63)
Variant Type:
Point
Domain:
EGF-1
Location:
Exon 4
Variant Effect:
Missense
Codon Change:
G>C
No. of Patients Reported:
3
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Variant disrupts FX PTM (beta-hydroxylation) at residue 103, leading to loss of FX function.Residue Information:
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Substitution Analysis:
Structural Implications:
Asp103 is an exposed residue (surface accessibility value = 4 ).
Asp103 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... E.
Asp103 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... E.
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