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Search Results: 5 unique variants retrieved
c.1345C>T
p.Arg449Trp (403)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31328
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of patients reported:
14
No. of bases:
1
Structural Information
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c.1346G>A
p.Arg449Gln (403)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31329
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of patients reported:
8
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.1347delG
p.Arg449fs*? (403)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31330
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.1347G>A
p.Arg449Arg (403)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31330
Mutation Effect:
Silent
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 (Polymorphism | Silent) of mutation at Exon 8.
Patient Information : Show
c.1347G>C
p.Arg449Arg (403)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31330
Mutation Effect:
Silent
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 (Polymorphism | Silent) of mutation at Exon 8.