Factor X Variant Database

In-Depth Variant Analysis: c.361T>C (p.Cys121Arg)

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c.361T>C

p.Cys121Arg (Legacy AA No. 81)

Variant Type:

Point

Domain:

EGF-1

Location:

Exon 4

Variant Effect:

Missense

Codon Change:

T>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251206

Allele Frequency *:

0.000008

Variant Comments & Reference:

Variant disrupts disulfide bond formation (Cys121-Cys112), interfering with EGF-1 domain folding and overall protein structure.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
207	48	F	Chinese	35	43	Heterozygous	Not Reported	Suffers from FX and FVII deficiency (FVII Arg353Gln). Related to pa_id: 208 & 209.	Jin et al 2018
208	73	F	Chinese	40	43	Heterozygous	Not Reported	Related to pa_id: 207 & 209.	Jin et al 2018
209	20	F	Chinese	42	47	Heterozygous	Not Reported	Related to pa_id: 207 & 208.	Jin et al 2018

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Cys	-	acyclic	medium	buried	hydrophilic	neutral
Mutated	Arg	basic	acyclic	large	surface	hydrophilic	postive

Substitution Analysis:

Grantham Score : 180

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

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -11.165)

Structural Implications:

Cys121 is a buried residue (surface accessibility value = 0 ).

Cys121 is in a region of secondary structure within the FX domains.

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

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