In Depth Mutation Analysis: c.53G>C (p.Cys18Ser)

c.53G>C

p.Cys18Ser (-28)

Mutation Type:

Polymorphism

Mutation Effect:

Missense

Domain:

Signal Peptide

Location:

Exon 1

No. of bases:

CpG:

Comments:

dbSNP database

No. of patients reported:

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	-	-			-			dbSNP database	Sherry et al (1999)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Cys	-	acycli	medium	hydrophilic	neutral
Mutated	Ser	-	acycli	small	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.

The subsitution involves a cysteine residue on the surface of the Signal Peptide region that may cause serious effects on the stability of the protein.

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Factor IX Variant Database

Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.53G>C (p.Cys18Ser)

Patient Information : Show

Residue Information :

Structural Implications :