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Search Results: 6 unique variants retrieved
c.1135C>G
p.Arg379Gly (333)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31118
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of patients reported:
5
No. of bases:
1
Structural Information
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c.1135C>T
p.Arg379* (333)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31118
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
Y
No. of patients reported:
80
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.
Patient Information : Show
c.1135C>A
p.Arg379Gly (333)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31118
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.1136G>A
p.Arg379Gln (333)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31119
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of patients reported:
75
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1136G>C
p.Arg379Pro (333)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31119
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.1136G>T
p.Arg379Leu (333)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31119
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of patients reported:
4
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
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,
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