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Search Results: 7 unique variants retrieved
c.1226_1227insAGAT
p.Ser368Argfs*? (368)
Mutation Type:
Insertion
Domain:
Serine Protease
Nucleotide number:
31209
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
4
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Insertion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1240C>A
p.Pro414Thr (368)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31223
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
17
No. of bases:
1
Structural Information
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c.1240C>T
p.Pro414Ser (368)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31223
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.1241C>A
p.Pro414His (368)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31224
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.
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c.1241C>T
p.Pro414Leu (368)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31224
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
8
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
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c.1241C>G
p.Pro414Arg (368)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31224
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.1242C>T
p.Pro414Pro (368)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31225
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.