In Depth Mutation Analysis: c.7C>T (p.Arg3Cys)

c.7C>T

p.Arg3Cys (-43)

Mutation Type:

Polymorphism

Mutation Effect:

Missense

Domain:

Signal Peptide

Location:

Exon 1

No. of bases:

CpG:

Comments:

ClinVar

No. of patients reported:

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	-	-			-			ClinVar	Landrum et al (2018)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Arg	basic	acycli	large	hydrophilic	postive
Mutated	Cys	-	acycli	medium	hydrophilic	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.7C>T (p.Arg3Cys)

Patient Information : Show

Residue Information :

Structural Implications :