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Search Results: 7 unique variants retrieved
c.1357T>A
p.Trp453Arg (407)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31340
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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c.1357T>C
p.Trp453Arg (407)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31340
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
5
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1358G>A
p.Trp453* (407)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31341
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Point | Nonsense) of mutation at Exon 8.
Patient Information : Show
c.1358G>T
p.Trp453Leu (407)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31341
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1359G>A
p.Trp453* (407)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31342
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Point | Nonsense) of mutation at Exon 8.
Patient Information : Show
c.1359G>C
p.Trp453Cys (407)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31342
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1359delG
p.Trp453fs*? (407)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31342
Mutation Effect:
Frameshift
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 (Deletion | Frameshift) of mutation at Exon 8.