In-Depth Variant Analysis: c.1247A>T (p.Gln416Leu)
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c.1247A>T
p.Gln416Leu (Legacy AA No. 376)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
A>T
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
4
Allele Number *:
282282
Allele Frequency *:
0.000014
Variant Comments & Reference:
Variant likely disrupts FX activity without disturbing native structure due to localisation within catalytic domain.Residue Information:
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Substitution Analysis:
Structural Implications:
Gln416 is an exposed residue (surface accessibility value = 4 ).
Gln416 is in a random coil area of the FX structure.
The DSSP assignment for this residue is ... T.
Gln416 is in a random coil area of the FX structure.
The DSSP assignment for this residue is ... T.
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