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Search Results: 6 unique variants retrieved
c.571C>A
p.Arg191Ser (145)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
20413
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
Y
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.571C>T
p.Arg191Cys (145)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
20413
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
Y
No. of patients reported:
67
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.572G>A
p.Arg191His (145)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
20414
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
Y
No. of patients reported:
102
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.572G>C
p.Arg191Pro (145)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
20414
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
Y
No. of patients reported:
8
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.572G>T
p.Arg191Leu (145)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
20414
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
Y
No. of patients reported:
5
No. of bases:
1
Structural Information
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here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.573T>A
p.Arg191Arg (145)
Mutation Type:
Polymorphism
Domain:
Linker
Nucleotide number:
20415
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.
Patient Information : Show
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Structural Immunology Group
,
University College London, Gower Street, London WC1E 6BT
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