Factor IX Variant Database

c.412A>C

p.Asn138His (92)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

EGF2

Location:

Exon 5

No. of bases:

CpG:

Comments:

No. of patients reported:

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Severity	Type	Country	Comments	Reference
1	-	-		-		-	Centre B6 (unpublished)
2	5	57	Moderate	II	France	-	Attali et al (1999)
3	-	-		-		-	Centre B37 (unpublished)
4	<1	-	Severe	-		-	Centre B37 (unpublished)
5	12	-	Mild	-		-	Centre B37 (unpublished)
6	<1	-	Severe	-		-	Centre B37 (unpublished)
7	7	-	Mild	-		-	Centre B37 (unpublished)
8	-	-	Mild	-	Italy	-	Belvini et al (2005)
9	5	-	Moderate	-		-	Centre B26 (unpublished)
10	2	-	Moderate	-		-	Centre B26 (unpublished)
11	-	-		-	Germany	-	Wulff et al (1998)
12	<1	-	Severe	-	India	-	Mahajan et al (2004)
13	<1	-	Severe	-	India	-	Mahajan et al (2004)
14	-	-		-	Germany	-	Wulff et al (1998)
15	2	66	Moderate	II	Japan	-	Nishimura et al (1991)
16	3.2	55	Moderate	II	China	-	Guo et al (2014)
17	-	-		-	Italy	-	Branchini et al (2022)
18	-	-		-	Japan	-	Shinozawa et al (2021)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Asn	-	acycli	medium	hydrophilic	neutral
Mutated	His	aroma	cyclic	large	hydrophilic	postive

Structural Implications :

Asn138 is an exposed residue. (the surface accessibility from the modelled FIXa structure is 3).

Asn138 is in a 3/10 helix region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is G).

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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.412A>C (p.Asn138His)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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