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Sequencing revealed a T to A transversion that resulted in a leucine to glutamine substitution in a segment predicted to form a coiled coil (CC) domain, and is conserved in the heptad repeats of the predicted alpha-helical coil. Western blot revealed normal levels of protein in mutant B cells. The change from nonpolar leucine to polar glutamine putatively disrupts the CC structure and interferes with protein pairing. (J:84042)
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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References Literature
Title
PMID
Journal
Year
IF
