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Search Results: 4 unique variants retrieved
c.1330T>C
p.Tyr444His (398)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31313
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.1331A>C
p.Tyr444Ser (398)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31314
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
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c.1331A>G
p.Tyr444Cys (398)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31314
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
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.1332T>C
p.Tyr444Tyr (398)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31315
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.