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This spontaneous point substitution of T-to-C at coding nucleotide 436 im exon 4 results in the replacement of a highly conserved tyrosine with histidine at position 146 (p.Y146H) in the SVHYECIP motif, which results in ER retention of this mutant protein and diminished cell surface expression. (J:268677)
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
