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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.427C>A (p.Gln143Lys)

c.427C>A

p.Gln143Lys (97)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

EGF2

Location:

Exon 5

No. of bases:

1

CpG:

N

Comments:

-

No. of patients reported:

9

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Severity	Type	Country	Comments	Reference
1	<1	-	Severe	-	South Korea	-	Kwon et al (2008)
2	-	-	Severe	-	Italy	-	Belvini et al (2005)
3	1.3	-	Moderate	-	Pakistan	-	Khan et al (2018)
4	1.4	-	Moderate	-	Pakistan	-	Khan et al (2018)
5	<0.01	-	Severe	-	Pakistan	-	Khan et al (2018)
6	<0.01	-	Severe	-	Pakistan	-	Khan et al (2018)
7	<0.01	-	Severe	-	Pakistan	-	Khan et al (2018)
8	-	-	Severe	-	Brazil	-	Meireles et al (2017)
9	1	-	Severe	-	China	-	Wang et al (2013)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Gln	-	acycli	large	hydrophilic	neutral
Mutated	Lys	basic	acycli	large	hydrophilic	postive

Structural Implications :

Gln143 is a buried residue (the surface accessibility from the modelled FIXa structure is 0).

Gln143 is in a bend region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is S).

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Factor IX Variant Database