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Search Results: 4 unique variants retrieved
c.1159A>G
p.Lys387Glu (341)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31142
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
10
No. of bases:
1
Structural Information
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Patient Information : Show
c.1160_1161insAA
p.Lys387Lysfs*40 (341)
Mutation Type:
Insertion
Domain:
Serine Protease
Nucleotide number:
31143
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
2
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Insertion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1161G>C
p.Lys387Asn (341)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31144
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.1161G>T
p.Lys387Asn (341)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31144
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.