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Search Results: 4 unique variants retrieved
c.1360A>T
p.Ile454Phe (408)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31343
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.1361T>A
p.Ile454Asn (408)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31344
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.1361T>C
p.Ile454Thr (408)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31344
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.1362delT
p.Ile454fs*? (408)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31345
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.