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Search Results: 6 unique variants retrieved
c.1294G>A
p.Gly432Ser (386)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31277
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
8
No. of bases:
1
Structural Information
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c.1294G>A
p.Gly432Ser (386)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31277
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.
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c.1295G>A
p.Gly432Asp (386)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31278
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
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c.1295G>C
p.Gly432Ala (386)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31278
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
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c.1295G>T
p.Gly432Val (386)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31278
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
6
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1296T>G
p.Gly432Gly (386)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31279
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.