In Depth Variant Analysis: c.973G>T (p.Val325Phe)
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c.973G>T
p.Val325Phe (Legacy AA No. 307)
Variant Type:
Point
Domain:
Apple 4
Codon Change:
G>T
Variant Effect:
Missense
No. of Patients Reported:
3
Phenotype:
U
Allele Count *:
2
Allele Number *:
251386
Allele Frequency *:
0.000008
Variant Comments & Reference:
Val325Phe is located buried at the surface of the Ap4 domain, and lies at the interface between the Ap1 and Ap4 domains, thus this mutation may disrupt the packing between the Ap domains. Saunders et al 2009Residue Information:
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Substitution Analysis:
Structural Implications:
Val325 is a buried residue (surface accessibility value = 0 ).
Val325 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... T.
Val325 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... T.
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