In Depth Variant Analysis: c.1856T>C (p.Leu619Pro)
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c.1856T>C
p.Leu619Pro (Legacy AA No. 601)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
T>C
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
1
Allele Number *:
251354
Allele Frequency *:
0.000004
Variant Comments & Reference:
Leu619 belongs to the C-terminal alpha-helix of the protease domain participating to the intimate linkage of this domain to the circular platform formed by the apple domains, a notable feature of the FXI structure that has been demonstrated to have implications for FXI ligand binding. Expression studies revealed a secretion defect. Spena et al 2009Residue Information:
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Substitution Analysis:
Structural Implications:
Leu619 is a buried residue (surface accessibility value = 1 ).
Leu619 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... H.
Leu619 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... H.
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