In Depth Variant Analysis: c.1061C>T (p.Ala354Val)
c.1061C>T
p.Ala354Val (Legacy AA No. 294)
Mutation Type:
Point
Domain:
Serine Protease
Codon Change:
GCC > GTC
Mutation Effect:
Missense
Location:
Exon(9)
No of bases:
1
No. of patients reported:
37
Patient Information : Show
Residue Information :
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Substitution Analysis :
Structural Implications :
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