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Search Results: 3 unique variants retrieved
c.835G>A
p.Ala279Thr (233)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30150
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
Y
No. of patients reported:
87
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.835G>T
p.Ala279Ser (233)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30150
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
-
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.836_837delCA
p.Ala279Glyfs*1 (233)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30151
Mutation Effect:
Frameshift
Location:
Exon(7)
CpG:
-
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 7.
Patient Information : Show
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