Factor X Variant Database

In-Depth Variant Analysis: c.1120C>T (p.Ser374Pro)

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c.1120C>T

p.Ser374Pro (Legacy AA No. 334)

Variant Type:

Point

Domain:

Serine protease

Location:

Exon 8

Variant Effect:

Missense

Codon Change:

C>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Variant reduces FX activation by FIXa and RVV-X, possibly by hindering FX recognition (FX Marseille).

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
216	49	M		23	80	Homozygous		Asymptomatic	No family history of bleeding.	Marchetti et al 1995
217	14	M		54	72	Heterozygous	c.424G>A (p.Glu142Lys)	Asymptomatic	No family history of bleeding. Related to pa_id: 219.	Marchetti et al 1995
218	15			55	106	Heterozygous		Not Reported		Marchetti et al 1995
219		F		68	66	Heterozygous	c.424G>A (p.Glu142Lys)	Asymptomatic	No family history of bleeding. Related to pa_id: 217.	Marchetti et al 1995
307	55	F		21		Homozygous		Asymptomatic	No bleeding history.	Bezeaud et al 1995
308		M		55	90	Heterozygous		Not Reported	Related to pa_id: 310-313.	Bernardi et al 1994
309		F		61	100	Heterozygous		Not Reported	Related to pa_id: 310-313.	Bernardi et al 1994
310		M		15	80	Homozygous		Not Reported	Related to pa_id: 308, 309, 311, 312 & 313.	Bernardi et al 1994
311		M		13	80	Homozygous		Not Reported	Related to pa_id: 308, 309, 310, 312 & 313.	Bernardi et al 1994
312		M		55	90	Heterozygous		Not Reported	Related to pa_id: 308-311 & 313.	Bernardi et al 1994
313		M		43	80	Heterozygous		Not Reported	Related to pa_id: 308-312.	Bernardi et al 1994
314	32	F	Italian	8.2	40	Heterozygous	c.1258G>A (p.Gly420Arg)	Asymptomatic	No bleeding history. Related to pa_id: 315-318.	Vianello et al 2001
316	61	F	Italian	78	87	Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 314, 317 & 318.	Vianello et al 2001
317	28	F	Italian	66	82	Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 314, 315, 316 & 318.	Vianello et al 2001

Residue Information:

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

Substitution Analysis:

Grantham Score : 74

PolyPhen-2 Prediction : Benign (SCORE: 0.412)

SIFT Prediction : Probably Damaging (SCORE: 0.04)

PROVEAN Prediction : Deleterious (SCORE: -3.135)

Structural Implications:

Ser374 is a buried residue (surface accessibility value = 0 ).

Ser374 is in a random coil area of the FX structure.

The DSSP assignment for this residue is ... C.

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