Factor IX Variant Database

c.142A>T

p.Asn48Tyr (2)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

Gla

Location:

Exon 2

No. of bases:

CpG:

Comments:

No. of patients reported:

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	4	60		Moderate	II		France	-	Costa et al (2000)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Asn	-	acycli	medium	hydrophilic	neutral
Mutated	Tyr	aroma	cyclic	large	hydrophobic	neutral

Structural Implications :

Asn48 is an exposed residue. (the surface accessibility from the modelled FIXa structure is 2).

Asn48 is in a random coil region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is C).

Hint: Left click mouse | To rotate the structure
Hint: Rotate mousewheel | To zoom in/out the structure
Hint: Right click mouse | to use applet control options

Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.142A>T (p.Asn48Tyr)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

Display Options