In Depth Variant Analysis: c.839A>C (p.Glu280Ala)
c.839A>C
p.Glu280Ala (Legacy AA No. 220)
Mutation Type:
Point
Domain:
Serine Protease
Codon Change:
GCG > GAG
Mutation Effect:
Missense
Location:
Exon(9)
No of bases:
1
No. of patients reported:
1
Patient Information : Show
Residue Information :
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Substitution Analysis :
Structural Implications :
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