Factor X Variant Database

Terms with a '*' next to them are explained on the Help Page .

c.631A>C

p.Thr211Pro (Legacy AA No. 171)

Variant Type:

Point

Domain:

Activation peptide

Location:

Exon 6

Variant Effect:

Missense

Codon Change:

A>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant prevents O-linked glycosylation of residue 211, disrupting FX activation by intrinsic Xase.

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
231	54	F	Chinese	108.3	91.92	Homozygous	Not Reported	Bleed in left fossa iliac, easy bruising, oral and uterine bleeding. Related to pa_id: 232-235.	Ding et al 2013
232		M	Chinese	129.3		Heterozygous	Not Reported	Related to pa_id: 231, 234 & 235.	Ding et al 2013
233		F	Chinese	134.6		Heterozygous	Not Reported	Related to pa_id: 231, 234 & 235.	Ding et al 2013
234		M	Chinese	96.1	90.7	Homozygous	Not Reported	Related to pa_id: 231, 232, 233 & 235.	Ding et al 2013
235		F	Chinese	143.2	123.5	Heterozygous	Not Reported	Related to pa_id: 231-234.	Ding et al 2013

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Thr	-	acyclic	medium	surface	hydrophilic	neutral
Mutated	Pro	-	cyclic	medium	surface	hydrophobic	neutral

Grantham Score : 38

PolyPhen-2 Prediction : Benign (SCORE: 0.228)

SIFT Prediction : Tolerated (SCORE: 0.23)

PROVEAN Prediction : Neutral (SCORE: -2.466)

Thr211 is in a region on the surface of the FX structure that is undefined. Hence the FX structure and its JMOL applet are not shown below.

NOTE: If no Java applet appears or a Java error message is shown, please click the following LINK.

Please click here to view the Database Statistics

Factor X Variant Database