In Depth Variant Analysis: c.593T>C (p.Ile198Thr)
c.593T>C
p.Ile198Thr (Legacy AA No. 138)
Mutation Type:
Point
Domain:
Activation Peptide
Codon Change:
ACA > ATA
Mutation Effect:
Missense
Location:
Exon(7)
No of bases:
1
No. of patients reported:
1
Patient Information : Show
Residue Information :
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Substitution Analysis :
Structural Implications :
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