In Depth Variant Analysis: c.328T>G (p.Cys110Gly)
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c.328T>G
p.Cys110Gly (Legacy AA No. 92)
Variant Type:
Point
Domain:
Apple 2
Codon Change:
T>G
Variant Effect:
Missense
No. of Patients Reported:
2
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
The Cys110Gly mutation results in the loss of the C110-C193 disulfide bond and likely impairs the structure of the Ap2 domain. Thus, this mutation could alter the assembly and secretion of the protein. Quelin et al 2005Residue Information:
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Substitution Analysis:
Structural Implications:
Cys110 is an exposed residue (surface accessibility value = 2 ).
Cys110 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
Cys110 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
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