In Depth Variant Analysis: c.1272G>C (p.Trp424Cys)
c.1272G>C
p.Trp424Cys (Legacy AA No. 364)
Mutation Type:
Point
Domain:
Serine Protease
Codon Change:
TGG > TGC
Mutation Effect:
Missense
Location:
Exon(9)
No of bases:
1
No. of patients reported:
2
Patient Information : Show
Residue Information :
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Substitution Analysis :
Structural Implications :
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