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Search Results: 5 unique variants retrieved
c.1225G>A
p.Gly409Arg (363)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31208
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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c.1225G>T
p.Gly409* (363)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31208
Mutation Effect:
Nonsense
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 (Point | Nonsense) of mutation at Exon 8.
Patient Information : Show
c.1226G>A
p.Gly409Glu (363)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31209
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1226G>C
p.Gly409Ala (363)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31209
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.1226G>T
p.Gly409Val (363)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31209
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.