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Search Results: 4 unique variants retrieved
c.1177A>C
p.Asn393Thr (347)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31160
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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c.1177_1179delAAC
p.Asn393del (347)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31160
Mutation Effect:
Inframe
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
3
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Inframe) of mutation at Exon 8.
Patient Information : Show
c.1178A>T
p.Asn393Ile (347)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31161
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.1178_1180delACA
p.Asn393del (347)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31161
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
6
No. of bases:
3
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 8.