In Depth Variant Analysis: c.761G>A (p.Cys254Tyr)
c.761G>A
p.Cys254Tyr (Legacy AA No. 194)
Mutation Type:
Point
Domain:
Serine Protease
Codon Change:
TGT > TAT
Mutation Effect:
Missense
Location:
Exon(8)
No of bases:
1
No. of patients reported:
3
Patient Information : Show
Residue Information :
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Substitution Analysis :
Structural Implications :
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