Factor X Variant Database

In-Depth Variant Analysis: c.212T>C (p.Phe71Ser)

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c.212T>C

p.Phe71Ser (Legacy AA No. 31)

Variant Type:

Point

Domain:

Gla domain

Location:

Exon 2

Variant Effect:

Missense

Codon Change:

T>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251428

Allele Frequency *:

0.000004

Variant Comments & Reference:

Variant likely induces conformational change and destabilizes FX protein. Legacy cDNA numbering in Au paper - Leytus et al 1986 (c.237T>C)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
123	35	M	British		<1		9	Homozygous		Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
178	15	M	Algerian	8		18		Homozygous		Severe	Severe bleeding (spontaneous and/or life-threatening).	Akhavan et al 2007
179	7	M	Algerian	<1		7		Homozygous		Severe	Severe bleeding (spontaneous and/or life-threatening). Related to pa_id: 180.	Akhavan et al 2007
180	4	F	Algerian	<1		14		Homozygous		Severe	Infant died at 4yrs due to intracranial hemorrhange. Related to pa_id: 179.	Akhavan et al 2007
181	19	F	Algerian	<1		7		Homozygous		Severe	Severe bleeding (spontaneous and/or life-threatening). Related to pa_id: 182.	Akhavan et al 2007
182	20	M	Algerian	<1		4		Homozygous		Severe	Severe bleeding (spontaneous and/or life-threatening). Relatde to pa_id: 181	Akhavan et al 2007
183	24	F	Algerian	<1		15		Homozygous		Severe	Severe bleeding (spontaneous and/or life-threatening). Related to pa_id: 184.	Akhavan et al 2007
184	20	M	Algerian	<1		16		Homozygous		Severe	Severe bleeding (spontaneous and/or life-threatening). Related to pa_id: 183.	Akhavan et al 2007
185	59	M	Algerian	<1		2		Heterozygous	Undefined cDNA (Y170) (p.Tyr170)	Severe	Severe bleeding (spontaneous and/or life-threatening).	Akhavan et al 2007

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Phe	aromatic	cyclic	large	buried	hydrophobic	neutral
Mutated	Ser	-	acyclic	small	surface	hydrophilic	neutral

Substitution Analysis:

Grantham Score : 155

PolyPhen-2 Prediction : Probably Damaging (SCORE: 1.000)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -7.326)

Structural Implications:

Phe71 is a buried residue (surface accessibility value = 1 ).

Phe71 is in a region of secondary structure within the FX domains.

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

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