In Depth Mutation Analysis: c.637A>T (p.Asn213Tyr)

c.637A>T

p.Asn213Tyr (167)

Mutation Type:

Polymorphism

Mutation Effect:

Missense

Domain:

Act-Peptide

Location:

Exon 6

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	Asn	-	acycli	medium	hydrophilic	neutral
Mutated	Tyr	aroma	cyclic	large	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.

Asn213 is in a proposed Glycosylation site [Reference].

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Factor IX Variant Database

Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.637A>T (p.Asn213Tyr)

Patient Information : Show

Residue Information :

Structural Implications :