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Search Results: 4 unique variants retrieved
c.1213G>A
p.Asp405Asn (359)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31196
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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c.1213_1214delGA
p.Asp405Phefs*6 (359)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31196
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 (Deletion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1214A>G
p.Asp405Gly (359)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31197
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.1215T>G
p.Asp405Glu (359)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31198
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.