Factor IX Variant Database

c.340T>G

p.Ser114Ala (68)

Mutation Type:

Polymorphism

Mutation Effect:

Missense

Domain:

EGF1

Location:

Exon 4

No. of bases:

CpG:

Comments:

dbSNP database

No. of patients reported:

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	-	-			-			dbSNP database	Sherry et al (1999)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Ser	-	acycli	small	hydrophilic	neutral
Mutated	Ala	aliph	acycli	small	hydrophobic	neutral

Structural Implications :

Ser114 is an exposed residue. (the surface accessibility from the modelled FIXa structure is 3).

Ser114 is in a bend region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is S).

Ser114 is in a proposed Phosphorylation site [Reference].

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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.340T>G (p.Ser114Ala)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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