In Depth Mutation Analysis: c.518C>T (p.Ala173Val)
c.518C>T
p.Ala173Val (127)
Mutation Type:
Point
Mutation Effect:
Missense
Domain:
Linker
Location:
Exon 5
No. of bases:
1
CpG:
N
Comments:
-
No. of patients reported:
3
Patient Information : Show
Residue Information :
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Structural Implications :
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