In Depth Variant Analysis:  c.209C>T (p.Pro70Leu)
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c.209C>T
p.Pro70Leu (Legacy AA No. 52)
Variant Type:  
Point
Domain:  
Apple 1
Codon Change: 
C>T
Variant Effect: 
Missense
No. of Patients Reported: 
0
Phenotype: 
U
Allele Count *: 
1
Allele Number *: 
251440
Allele Frequency *: 
0.000004
Variant Comments & Reference:
Unpublished Data From Coagulation factor XI: a database of mutations and polymorphism associated with factor XI deficiency http://www.wienkav.at/kav/factorxi/Faktor_XI_Suche.aspResidue Information:
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Substitution Analysis:
Structural Implications:
Pro70 is an exposed residue  (surface accessibility value = 4 ).
Pro70 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... T.
Pro70 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... T.
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