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Search Results: 5 unique variants retrieved
c.1300G>T
p.Glu434* (388)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31283
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
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.1300G>A
p.Glu434Lys (388)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31283
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
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.1301A>G
p.Glu434Gly (388)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31284
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
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.1301_1302delAG
p.Glu434Valfs*21 (388)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31284
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
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.1302G>A
p.Glu434Glu (388)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31285
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.