Data Export Options:
Search Results: 6 unique variants retrieved
c.1330_1341dupTATATACCAAGG
p.448_451dupTyrThrLysVal (402)
Mutation Type:
Duplication
Domain:
Serine Protease
Nucleotide number:
31313
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
12
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Duplication | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1342delT
p.Ser448Profs*35 (402)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31325
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.1343C>T
p.Ser448Phe (402)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31326
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
5
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.1343C>A
p.Ser448Tyr (402)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31326
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.1343_1350delCCCGGTAT
p.Ser448Cysfs*5 (402)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31326
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
8
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.1344_1345delCCinsAAGGTACCAA
p.Ser448fs*? (402)
Mutation Type:
Indel
Domain:
Serine Protease
Nucleotide number:
31327
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
2
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Indel | Frameshift) of mutation at Exon 8.