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Sequencing of cDNA extracted and amplified from heterozygous brains revealed a G to T substitution at coding cDNA nucleotide 535 (c.535G>T) in a region that corresponds to exon 7 (coding exon 6) of the gene. This mutation results in an aspartic acid to tyrosine amino acid substitution at the highly conserved position 179 of the encoded protein (p.D179Y or p.Asp179Tyr). (J:161272)
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
