Search Results: 1 unique variant retrieved.



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  c.302A>G
p.Lys101Arg (Legacy AA No. 83)
Variant Type: 
Point
Domain: 
Apple 1
Codon Change: 
A>G
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
3
Allele Number *: 
251288
Allele Frequency *: 
0.000012

Variant Comments & Reference:

Lys101 is a highly conserved residue positioned near Cys103, which is involved in a disulphide linkage. Although this substitution involves amino acids with similar physical and chemical properties, the change may affect local conformation. Hill et al 2005

Patient Information: Show


Structural Interpretation:

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Factor XI Variant Database