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A C to A transversion mutation at position 4073 (c.C>A4073) predicts a nonconservative threonine to lysine substitution at position 1358 (p.T1358K) in the extracellular pore-forming loop region that connects segments 5 and 6 of repeat III of the encoded protein. (J:71860)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
