Search Results: 2 unique variants retrieved
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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 2008 c.423G>A
p.Thr141= (Legacy AA No. 123)
Variant Type:
Point
Domain:
Apple 2
Codon Change:
G>A
Variant Effect:
Silent
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
1
Allele Number *:
251274
Allele Frequency *:
0.000004