In Depth Variant Analysis:  c.901T>C (p.Phe301Leu)
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c.901T>C
p.Phe301Leu (Legacy AA No. 283)
Variant Type:  
Point
Domain:  
Apple 4
Codon Change: 
T>C
Variant Effect: 
Missense
No. of Patients Reported: 
22
Phenotype: 
I
Allele Count *: 
297
Allele Number *: 
282824
Allele Frequency *: 
0.001050
Variant Comments & Reference:
Jewish Type III. Mutant protein was secreted at reduced levels (8%) compared to wild type. Northern blot analysis demonstrated that wild type and mutant protein generated similar amounts of mRNA. Meijers et al 1992, Kravtsov et al 2004, Tiscia et al 2017Residue Information:
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Substitution Analysis:
Structural Implications:
Phe301 is a buried residue  (surface accessibility value = 0 ).
Phe301 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Phe301 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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