In Depth Mutation Analysis: c.536G>C (p.Gly179Ala )

c.536G>C

p.Gly179Ala (133)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

Linker

Location:

Exon 6

No. of bases:

CpG:

Comments:

Female

No. of patients reported:

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	-	-		Mild	-		Italy	Female	Salviato et al (2019)
2	<1	-		Severe	-	NO	North Macedonia	Albanian	Sukarova Stefanovska et al (2015)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Gly	aliph	acycli	small	hydrophobic	neutral
Mutated	Ala	aliph	acycli	small	hydrophobic	neutral

Structural Implications :

Structural analysis is restricted to the mature protein. No structural information is available for this residue because it is not present in the active FIXa molecule model that has been constructed.

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Factor IX Variant Database

Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.536G>C (p.Gly179Ala )

Patient Information : Show

Residue Information :

Structural Implications :