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Search Results: 6 unique variants retrieved
c.1276A>G
p.Thr426Ala (380)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31259
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.1276A>C
p.Thr426Pro (380)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31259
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.1277C>A
p.Thr426Asn (380)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31260
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.1277C>G
p.Thr426Ser (380)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31260
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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c.1277C>T
p.Thr426Ile (380)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31260
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.1278delT
p.Thr426Thrfs*12 (380)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31261
Mutation Effect:
Frameshift
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 (Deletion | Frameshift) of mutation at Exon 8.