Factor V Variant Database

In-Depth Variant Analysis: c.286G>C (p.Asp96His)

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c.286G>C

p.Asp96His (Legacy AA No. 68)

Variant Type:

Point

Domain:

d5A1

Location:

Exon 3

Variant Effect:

Missense

Codon Change:

286G>C

No. of Patients Reported:

Phenotype:

Moderate

Allele Count *:

Allele Number *:

282272

Allele Frequency *:

0.000078

Variant Comments & Reference:

bleeding during teeth regeneration prolonged

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
18	NA	M	NA	5	NA	6	NA	Homozygous		Moderate	bleeding during teeth regeneration prolonged	Cao et al 2011
19	NA	M	NA	49	NA	85	NA	Heterozygous		Asymptomatic	NA	Cao et al 2011
20	NA	F	NA	63	NA	85	NA	Heterozygous		Asymptomatic	NA	Cao et al 2011
21	NA	N	NA	low	NA	low	NA	Heterozygous		NA	NA	Huang et al 2010
22	NA	F	NA	2	NA	<2	NA	Heterozygous	c.524A>G (p.His175Arg)c.6304C>T (p.Arg2102Cys)	Moderate	tooth extraction caused severe and prolonged bleeding	Liu et al 2014A
23	NA	F	NA	2	NA	<2	NA	Heterozygous	c.524A>G (p.His175Arg)c.6304C>T (p.Arg2102Cys)	Moderate	NA	Liu et al 2014A
24	NA	M	NA	66	NA	70	NA	Heterozygous		Asymptomatic	NA	Liu et al 2014A
25	NA	F	NA	41	NA	NA	NA	Heterozygous		Asymptomatic	haematuria, menorrhagia	Park et al 2016
26	NA	F	NA	44	NA	NA	NA	Heterozygous		Asymptomatic	NA	Park et al 2016
27	NA	M	NA	7	NA	NA	NA	Heterozygous	c.2426delC (p.Pro809Hisfs*2)	Mild	avascular necrosis of femoral heads needing surgery (FFP prophylaxis)	Park et al 2019
28	NA	N	NA	low	NA	low	NA	Not reported		NA	NA	Cao et al 2008
332	NA	M	NA	7	NA	NA	NA	Heterozygous	c.2426delC (p.Pro809Hisfs*2)	Mild	NA	Park et al 2019
58	NA	F	NA	2	NA	<2	NA	Heterozygous	c.524A>G (p.His175Arg)c.6304C>T (p.Arg2102Cys)	Moderate	tooth extraction caused severe and prolonged bleeding	Liu et al 2014A
59	NA	F	NA	2	NA	<2	NA	Heterozygous	c.524A>G (p.His175Arg)c.6304C>T (p.Arg2102Cys)	Moderate	NA	Liu et al 2014A
745	NA	F	NA	2	NA	<2	NA	Heterozygous	c.524A>G (p.His175Arg)c.6304C>T (p.Arg2102Cys)	Moderate	prolonged and excessive bleeding after a tooth extraction	Liu et al 2014A
746	NA	F	NA	2	NA	<2	NA	Heterozygous	c.524A>G (p.His175Arg)c.6304C>T (p.Arg2102Cys)	Moderate	NA	Liu et al 2014A

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Asp	acidic	acyclic	medium	surface	hydrophilic	negative
Mutated	His	aromatic/basic	cyclic	large	surface	hydrophilic	postive

Substitution Analysis:

Grantham Score : 81

PolyPhen-2 Prediction : probably damaging (SCORE: 1.000)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -5.935)

Structural Implications:

FV: Asp96 is a buried residue (surface accessibility value = 0 ).

FVa: Asp96 is a buried residue (surface accessibility value = 0 ).

Asp96 is in a region of secondary structure within the FV domains.

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

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