In Depth Variant Analysis:  c.865G>C (p.Val289Leu)
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c.865G>C
p.Val289Leu (Legacy AA No. 271)
Variant Type:  
Point
Domain:  
Apple 3
Codon Change: 
G>C
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
1
Allele Number *: 
251340
Allele Frequency *: 
0.000004
Variant Comments & Reference:
As Val289 is the last codon of exon 8, located at its 3' splice donor junction, a mutation at this consensus splice sequence is predicted to abolish the physiological donor splice site for exon 8, resulting in an abnormal FXI transcript. Jayandharan et al 2005Residue Information:
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Substitution Analysis:
Structural Implications:
Val289 is a buried residue  (surface accessibility value = 0 ).
Val289 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
Val289 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
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