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Search Results: 3 unique variants retrieved
c.1274T>C
p.Leu425Ser (379)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31257
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1274T>G
p.Leu425* (379)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31257
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Point | Nonsense) of mutation at Exon 8.
Patient Information : Show
c.1275A>C
p.Leu425Phe (379)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31258
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.