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Search Results: 7 unique variants retrieved
c.681_682insT
p.Val228fsCys*20 (182)
Mutation Type:
Insertion
Domain:
Serine Protease
Nucleotide number:
20523
Mutation Effect:
Frameshift
Location:
Exon(6)
CpG:
N
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 (Insertion | Frameshift) of mutation at Exon 6.
Patient Information : Show
c.682G>C
p.Val228Leu (182)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20524
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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Patient Information : Show
c.682G>T
p.Val228Phe (182)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20524
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.683T>C
p.Val228Ala (182)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20525
Mutation Effect:
Missense
Location:
Exon(6)
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.683T>G
p.Val228Gly (182)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20525
Mutation Effect:
Missense
Location:
Exon(6)
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.683T>A
p.Val228Asp (182)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20525
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
-
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.684T>G
p.Val228Val (182)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
20526
Mutation Effect:
Silent
Location:
Exon(6)
CpG:
N
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 (Polymorphism | Silent) of mutation at Exon 6.