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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.1106T>C (p.Leu369Pro)

c.1106T>C

p.Leu369Pro (323)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

Serine Protease

Location:

Exon 8

No. of bases:

1

CpG:

N

Comments:

-

No. of patients reported:

3

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Severity	Type	Country	Comments	Reference
1	5 to 8	-	Mild	-		-	Centre B14 (unpublished)
2	15	-	Mild	-		-	Centre B14 (unpublished)
3	-	-	Mild	-	Belgium	-	Lannoy et al (2017)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Leu	aliph	acycli	large	hydrophobic	neutral
Mutated	Pro	-	cyclic	medium	hydrophobic	neutral

Structural Implications :

Leu369 is a buried residue (the surface accessibility from the modelled FIXa structure is 0).

Leu369 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