In-Depth Variant Analysis:  Undefined cDNA (E91K) (p.Glu91Lys)
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Undefined cDNA (E91K)
p.Glu91Lys (Legacy AA No. 51)
Variant Type: 
Point
Domain: 
EGF-1
Location: 
Exon 4
Variant Effect: 
Missense
Codon Change: 
No. of Patients Reported: 
15
Phenotype: 
II
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Substitution of acidic residue by basic suggests variant disrupts structure and thus function of FX (FX Riyadh).Residue Information:
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Substitution Analysis:
Structural Implications:
Glu91 is an exposed residue  (surface accessibility value = 5 ).
Glu91 is in a random coil area of the FX structure.
The DSSP assignment for this residue is ... T.
Glu91 is in a random coil area of the FX structure.
The DSSP assignment for this residue is ... T.
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