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Search Results: 3 unique variants retrieved
c.1001T>C
p.Ile334Thr (288)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30984
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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Patient Information : Show
c.1002T>G
p.Ile334Met (288)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30985
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.1005C>A
p.Cys335* (288)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30988
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
-
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 (Point | Nonsense) of mutation at Exon 8.