In Depth Variant Analysis:  c.809A>T (p.Lys270Ile)
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c.809A>T
p.Lys270Ile (Legacy AA No. 252)
Variant Type:  
Point
Domain:  
Apple 3
Codon Change: 
A>T
Variant Effect: 
Missense
No. of Patients Reported: 
4
Phenotype: 
I
Allele Count *: 
148
Allele Number *: 
282756
Allele Frequency *: 
0.000523
Variant Comments & Reference:
Expression of mutant proteins in stably transfected cells showed a 73% reduction, but expression of the mutant protein in cell lysates was similar to normal - suggests mutant protein was synthesised but secretion was reduced. Dai et al 2004Residue Information:
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Substitution Analysis:
Structural Implications:
Lys270 is an exposed residue  (surface accessibility value = 7 ).
Lys270 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Lys270 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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