Factor IX Variant Database

c.1180A>G

p.Met394Val (348)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

Serine Protease

Location:

Exon 8

No. of bases:

CpG:

Comments:

No. of patients reported:

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Severity	Type	Country	Comments	Reference
1	3	103	Moderate	II	USA	-	Chen et al (1991a)
2	4	77	Moderate	II		-	Centre B36 (unpublished)
3	5	-	Moderate	-		-	Centre B36 (unpublished)
4	6	-	Mild	-		-	Centre B11 (unpublished)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Met	-	acycli	large	hydrophobic	neutral
Mutated	Val	aliph	acycli	medium	hydrophobic	neutral

Structural Implications :

Met394 is a buried residue (the surface accessibility from the modelled FIXa structure is 0).

Met394 is in a beta sheet region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is E).

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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.1180A>G (p.Met394Val)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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