Data Export Options:
Search Results: 5 unique variants retrieved
c.1072A>G
p.Arg358Gly (312)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31055
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.1072_1073delAG
p.Arg358Serfs*15 (312)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31055
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
2
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.1073G>T
p.Arg358Ile (312)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31056
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.1074_1075delAG
p.Arg358Serfs*15 (312)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31057
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
2
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.1074A>G
p.Arg358Arg (312)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31057
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.