In Depth Variant Analysis: c.1271_1272del2insTT (p.Trp424Phe)
c.1271_1272del2insTT
p.Trp424Phe (Legacy AA No. 364)
Mutation Type:
Indel
Domain:
Serine Protease
Codon Change:
TGG > TTT
Mutation Effect:
Missense
Location:
Exon(9)
No of bases:
2
No. of patients reported:
1
Patient Information : Show
Residue Information :
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Substitution Analysis :
Structural Implications :
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