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Search Results: 5 unique variants retrieved
c.1324G>A
p.Gly442Arg (396)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31307
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
7
No. of bases:
1
Structural Information
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c.1325G>A
p.Gly442Glu (396)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31308
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.1325G>C
p.Gly442Ala (396)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31308
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.1325G>T
p.Gly442Val (396)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31308
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
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c.1326_1339delAATATATACCAAGG
p.Gly442Glyfs*9 (396)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31309
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
14
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 8.