Factor IX Variant Database

c.1084A>G

p.Lys362Glu (316)

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(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	-	-		Moderate	-		Germany	-	Wulff et al (1995)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Lys	basic	acycli	large	hydrophilic	postive
Mutated	Glu	acidi	acycli	large	hydrophilic	negative

Structural Implications :

Lys362 is an exposed residue. (the surface accessibility from the modelled FIXa structure is 6).

Lys362 is in a hydrogen bonded turn region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is T).

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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.1084A>G (p.Lys362Glu)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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