In Depth Mutation Analysis: c.1025C>G (p.Thr342Arg)
c.1025C>G
p.Thr342Arg (296)
Mutation Type:
Point
Mutation Effect:
Missense
Domain:
Serine Protease
Location:
Exon 8
No. of bases:
1
CpG:
Y
Comments:
-
No. of patients reported:
2
Patient Information : Show
Residue Information :
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Structural Implications :
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