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Search Results: 6 unique variants retrieved
c.1279G>A
p.Gly427Arg (381)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31262
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
7
No. of bases:
1
Structural Information
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c.1279delG
p.Gly427Glufs*11 (381)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31262
Mutation Effect:
Frameshift
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 (Deletion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1280G>T
p.Gly427Val (381)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31263
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
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.1280G>A
p.Gly427Glu (381)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31263
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.1280G>C
p.Gly427Ala (381)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31263
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.1281A>G
p.Gly427Gly (381)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31264
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.