In Depth Variant Analysis:  c.449C>T (p.Thr150Met)
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c.449C>T
p.Thr150Met (Legacy AA No. 132)
Variant Type:  
Point
Domain:  
Apple 2
Codon Change: 
C>T
Variant Effect: 
Missense
No. of Patients Reported: 
6
Phenotype: 
I
Allele Count *: 
1
Allele Number *: 
251286
Allele Frequency *: 
0.000004
Variant Comments & Reference:
Mitchell et al 2006, Saunders et al 2009, Tiscia et al 2017Residue Information:
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Substitution Analysis:
Structural Implications:
Thr150 is a buried residue  (surface accessibility value = 0 ).
Thr150 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Thr150 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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