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Search Results: 8 unique variants retrieved
c.1024A>G
p.Thr342Ala (296)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31007
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
6
No. of bases:
1
Structural Information
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c.1024A>C
p.Thr342Arg (296)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31007
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.1024delA
p.Thr342Argfs*12 (296)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31007
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
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 (Deletion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1024_1027delACGA
p.Thr342fs (296)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31007
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
4
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1025C>A
p.Thr342Lys (296)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31008
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of patients reported:
2
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1025C>T
p.Thr342Met (296)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31008
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of patients reported:
175
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1025C>G
p.Thr342Arg (296)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31008
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of patients reported:
2
No. of bases:
1
Structural Information
Please click
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1026G>A
p.Thr342Thr (296)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31009
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.
Patient Information : Show
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Structural Immunology Group
,
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