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Search Results: 6 unique variants retrieved
c.1291T>A
p.Trp431Arg (385)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31274
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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c.1291T>C
p.Trp431Arg (385)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31274
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
9
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
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c.1291T>G
p.Trp431Gly (385)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31274
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.1293G>C
p.Trp431Cys (385)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31276
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.1293G>T
p.Trp431Cys (385)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31276
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.
Patient Information : Show
c.1293G>A
p.Trp431* (385)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31276
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of patients reported:
9
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Point | Nonsense) of mutation at Exon 8.