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Search Results: 4 unique variants retrieved
c.1297G>C
p.Glu433Gln (387)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31280
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.1297G>A
p.Glu433Lys (387)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31280
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
10
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1298A>C
p.Glu433Ala (387)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31281
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
6
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1298A>G
p.Glu433Gly (387)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31281
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.