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Search Results: 5 unique variants retrieved
c.1180A>G
p.Met394Val (348)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31163
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
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c.1180delA
p.Met394Cysfs*32 (348)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31163
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.
Patient Information : Show
c.1181T>A
p.Met394Lys (348)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31164
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.
Patient Information : Show
c.1181T>G
p.Met394Arg (348)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31164
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
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.1182G>A
p.Met394Ile (348)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31165
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.