Factor IX Variant Database

c.340T>C

p.Ser114Pro (68)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

EGF1

Location:

Exon 4

No. of bases:

CpG:

Comments:

No. of patients reported:

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Severity	Type	Inhibitors	Country	Comments	Reference
1	-	-	Moderate	-	NO	China	-	Yu et al (2012)
2	-	-		-		China	-	Huang et al (2020)
3	-	-		-		China	-	Liu et al (2013)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Ser	-	acycli	small	hydrophilic	neutral
Mutated	Pro	-	cyclic	medium	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>C (p.Ser114Pro)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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