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Search Results: 5 unique variants retrieved
c.1057G>C
p.Val353Leu (307)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31040
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.1058T>C
p.Val353Ala (307)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31041
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
7
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
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c.1058T>G
p.Val353Gly (307)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31041
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.
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c.1058T>A
p.Val353Glu (307)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31041
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.1059_68delAAGTGGCTGG
p.Val353Valfs*12 (307)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31042
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
10
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 8.