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Search Results: 4 unique variants retrieved
c.1129G>T
p.Val377Phe (331)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31112
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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c.1130T>A
p.Val377Asp (331)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31113
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.1130T>C
p.Val377Ala (331)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31113
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.1130_1132delTTG
p.Val377del (331)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31113
Mutation Effect:
Inframe
Location:
Exon(8)
CpG:
N
No. of patients reported:
6
No. of bases:
3
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Inframe) of mutation at Exon 8.