In Depth Mutation Analysis: c.639C>A (p.Asn213Lys)
c.639C>A
p.Asn213Lys (167)
Mutation Type:
Point
Mutation Effect:
Missense
Domain:
Act-Peptide
Location:
Exon 6
No. of bases:
1
CpG:
-
Comments:
-
No. of patients reported:
1
Patient Information : Show
Residue Information :
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Structural Implications :
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