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Search Results: 6 unique variants retrieved
c.1168A>T
p.Ile390Phe (344)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31151
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
5
No. of bases:
1
Structural Information
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c.1168A>G
p.Ile390Val (344)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31151
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.1169T>A
p.Ile390Asn (344)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31152
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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c.1169T>C
p.Ile390Thr (344)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31152
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
5
No. of bases:
1
Structural Information
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c.1169T>G
p.Ile390Ser (344)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31152
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
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c.1170C>T
p.Ile390Ile (344)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31153
Mutation Effect:
Silent
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Polymorphism | Silent) of mutation at Exon 8.