In Depth Variant Analysis: c.992C>T (p.Thr331Ile)
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c.992C>T
p.Thr331Ile (Legacy AA No. 313)
Variant Type:
Point
Domain:
Apple 4
Codon Change:
C>T
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Interestingly, this mutation is similar to the Thr51Ile conversion but occurs in Ap4. This Thr residue, Thr331, which is laid in the extended strand positioned after alpha-helix, is conserved in positions 60, 150, 240 and 331 of Apple 1, 2, 3 and 4 domains, respectively. The major role of Apple 4 is to mediate dimer formation of two identical polypeptide chains and the Thr331Ile change may distort the conformation of the Apple 4 domain and interfere with its function. Fard-Esfahani et al 2008Residue Information:
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Substitution Analysis:
Structural Implications:
Thr331 is a buried residue (surface accessibility value = 0 ).
Thr331 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Thr331 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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