In Depth Variant Analysis: c.911C>T (p.Ala304Val)
c.911C>T
p.Ala304Val (Legacy AA No. 244)
Mutation Type:
Point
Domain:
Serine Protease
Codon Change:
GCG > GTG
Mutation Effect:
Missense
Location:
Exon(9)
No of bases:
1
No. of patients reported:
34
Patient Information : Show
Residue Information :
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Substitution Analysis :
Structural Implications :
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