In Depth Variant Analysis: c.647G>A (p.Gly216Asp)
c.647G>A
p.Gly216Asp (Legacy AA No. 156)
Mutation Type:
Point
Domain:
Serine Protease
Codon Change:
GGC > GAC
Mutation Effect:
Missense
Location:
Exon(7)
No of bases:
1
No. of patients reported:
2
Patient Information : Show
Residue Information :
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Substitution Analysis :
Structural Implications :
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