In Depth Mutation Analysis: c.128G>A (p.Arg43Gln)
c.128G>A
p.Arg43Gln (-4)
Mutation Type:
Point
Mutation Effect:
Missense
Domain:
Pro-Peptide
Location:
Exon 2
No. of bases:
1
CpG:
Y
Comments:
-
No. of patients reported:
103
Patient Information : Show
Residue Information :
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Structural Implications :
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