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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.316G>C (p.Gly106Arg)

c.316G>C

p.Gly106Arg (60)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

EGF1

Location:

Exon 4

No. of bases:

1

CpG:

Y

Comments:

-

No. of patients reported:

4

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Severity	Type	Inhibitors	Country	Comments	Reference
1	<1	6	Severe	II		USA	-	Bottema et al (1991)
2	-	-	Severe	-	NO	USA	-	Miller et al (2012)
3	-	-	Severe	-		USA	-	Li et al (2014)
4	-	-	Severe	-		USA	-	Li et al (2014)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Gly	aliph	acycli	small	hydrophobic	neutral
Mutated	Arg	basic	acycli	large	hydrophilic	postive

Structural Implications :

Gly106 is a buried residue (the surface accessibility from the modelled FIXa structure is 0).

Gly106 is in a random coil region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is C).

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Factor IX Variant Database