In Depth Variant Analysis: c.422C>T (p.Thr141Met)
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c.422C>T
p.Thr141Met (Legacy AA No. 123)
Variant Type:
Point
Domain:
Apple 2
Codon Change:
C>T
Variant Effect:
Missense
No. of Patients Reported:
2
Phenotype:
I
Allele Count *:
11
Allele Number *:
282690
Allele Frequency *:
0.000039
Variant Comments & Reference:
The Thr141Met mutation results in the introduction of a hydrophobic sulfur atom (Met) and the loss of hydrophilic hydroxyl group (Thr). Castaman et al 2008Residue Information:
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Substitution Analysis:
Structural Implications:
Thr141 is a buried residue (surface accessibility value = 0 ).
Thr141 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... H.
Thr141 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... H.
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