In Depth Mutation Analysis: c.130C>T (p.Pro44Ser)
c.130C>T
p.Pro44Ser (-2)
Mutation Type:
Polymorphism
Mutation Effect:
Missense
Domain:
Pro-Peptide
Location:
Exon 2
No. of bases:
1
CpG:
-
Comments:
dbSNP database
No. of patients reported:
1
Patient Information : Show
Residue Information :
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Structural Implications :
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