In Depth Variant Analysis: c.716T>C (p.Phe239Ser)
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c.716T>C
p.Phe239Ser (Legacy AA No. 221)
Variant Type:
Point
Domain:
Apple 3
Codon Change:
T>C
Variant Effect:
Missense
No. of Patients Reported:
3
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Transient expression experiment revealed secretion of Phe239Ser FXI was significantly reduced compared with that of wild-type FXI. Morishita et al 2003 (Abstract), Okumura et al 2006Residue Information:
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Substitution Analysis:
Structural Implications:
Phe239 is a buried residue (surface accessibility value = 0 ).
Phe239 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Phe239 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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