Factor X Variant Database

In-Depth Variant Analysis: c.290A>C (p.Asn97Thr)

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c.290A>C

p.Asn97Thr (Legacy AA No. 57)

Variant Type:

Point

Domain:

EGF-1

Location:

Exon 4

Variant Effect:

Missense

Codon Change:

A>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

(FX Wenatchee II). Legacy cDNA numbering in paper - unknown origin (c.9338A>C)

Patient Information: Show

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Asn	-	acyclic	medium	surface	hydrophilic	neutral
Mutated	Thr	-	acyclic	medium	surface	hydrophilic	neutral

Substitution Analysis:

Grantham Score : 65

PolyPhen-2 Prediction : Probably Damaging (SCORE: 0.999)

SIFT Prediction : Tolerated (SCORE: 0.11)

PROVEAN Prediction : Deleterious (SCORE: -4.609)

Structural Implications:

Asn97 is an exposed residue (surface accessibility value = 3 ).

Asn97 is in a region of secondary structure within the FX domains.

The DSSP assignment for this residue is ... S.

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