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Search Results: 7 unique variants retrieved
c.943G>T
p.Asp315Tyr (269)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30926
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
3
No. of bases:
1
Structural Information
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c.943G>A
p.Asp315Asn (269)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30926
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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c.944A>T
p.Asp315Tyr (269)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30927
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.944A>G
p.Asp315Gly (269)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30927
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
5
No. of bases:
1
Structural Information
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c.944A>T
p.Asp315Val (269)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30927
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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c.945C>A
p.Asp315Glu (269)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30928
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.945C>T
p.Asp315Asp (269)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30928
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.