Factor X Variant Database

In-Depth Variant Analysis: Undefined cDNA (E91K) (p.Glu91Lys)

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Undefined cDNA (E91K)

p.Glu91Lys (Legacy AA No. 51)

Variant Type:

Point

Domain:

EGF-1

Location:

Exon 4

Variant Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Substitution of acidic residue by basic suggests variant disrupts structure and thus function of FX (FX Riyadh).

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C (IU/dl)	Inheritance	Severity	Comments	Reference
186	64	M	Saudi Arabian	4	Homozygous	Not Reported	Related to pa_id: 187-192.	Al-Hilali et al 2007
187	7	F	Saudi Arabian	45	Heterozygous	Not Reported	Related to pa_id: 186, 188-192.	Al-Hilali et al 2007
188	24	F	Saudi Arabian	40	Heterozygous	Not Reported	Related to pa_id: 186, 187, 189-192.	Al-Hilali et al 2007
189	21	F	Saudi Arabian	49	Heterozygous	Not Reported	Related to pa_id: 186, 187, 188, 190, 191 & 192.	Al-Hilali et al 2007
190	15	M	Saudi Arabian	46	Heterozygous	Not Reported	Related to pa_id: 186-189, 191 & 192.	Al-Hilali et al 2007
191	12	F	Saudi Arabian	46	Heterozygous	Not Reported	Related to pa_id: 186-190 & 192.	Al-Hilali et al 2007
192	10	F	Saudi Arabian	67	Heterozygous	Not Reported	Related to pa_id: 186-191.	Al-Hilali et al 2007
193	77	F	Saudi Arabian		Heterozygous	Not Reported	Related to pa_id: 195-200.	Al-Hilali et al 2007
194		M	Saudi Arabian		Heterozygous	Not Reported	Related to pa_id: 195-200.	Al-Hilali et al 2007
195	46	M	Saudi Arabian	5	Homozygous	Not Reported	Related to pa_id: 193, 194, 196-200.	Al-Hilali et al 2007
196	36	F	Saudi Arabian		-	Not Reported	Related to pa_id: 193, 194, 195, 197-200.	Al-Hilali et al 2007
197	17	M	Saudi Arabian		Heterozygous	Not Reported	Related to pa_id: 193-196, 198, 199, & 200.	Al-Hilali et al 2007
198	6	M	Saudi Arabian		Heterozygous	Not Reported	Related to pa_id: 193-197, 199, & 200.	Al-Hilali et al 2007
199	24	F	Saudi Arabian	30	Heterozygous	Not Reported	Related to pa_id: 193-198, & 200.	Al-Hilali et al 2007
200	9	F	Saudi Arabian	90	Heterozygous	Not Reported	Related to pa_id: 193-199.	Al-Hilali et al 2007

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Glu	acidic	acyclic	large	surface	hydrophilic	negative
Mutated	Lys	basic	acyclic	large	surface	hydrophilic	postive

Substitution Analysis:

Grantham Score : 56

PolyPhen-2 Prediction : Benign (SCORE: 0.020)

SIFT Prediction : Tolerated (SCORE: 0.10)

PROVEAN Prediction : Neutral (SCORE: -0.822)

Structural Implications:

Glu91 is an exposed residue (surface accessibility value = 5 ).

Glu91 is in a random coil area of the FX structure.

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

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