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Search Results: 3 unique variants retrieved
c.1334C>A
p.Thr445Asn (399)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31317
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.1334C>T
p.Thr445Ile (399)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31317
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.1334_1335insATATATACC
p.Thr445_Lys446insTyrIlePro (399)
Mutation Type:
Insertion
Domain:
Serine Protease
Nucleotide number:
31317
Mutation Effect:
Inframe
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
9
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Insertion | Inframe) of mutation at Exon 8.