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A C-to-A transversion mutation at coding nucleotide 502 (c.502C>A) leads to a histidine to asparagine substitution (p.H168N) in a highly conserved region of the protein. Experiments in cultured cells indicate that the mutant protein is retained in the endoplasmic reticulum. (J:57460, J:243806)
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
