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EN
This spontaneous 6 bp deletion of TTTCTG in exon 13 of NM009677, isoform 1, and exon 12 of Nm002301211, isoform 2, is predicted to cause an in-frame deletion of F391 and L392 of isoform 1, or F388 and L389 of isoform 2, amino acids which are in the adaptin N-terminal homology domain involved in interactions with other subunitos of the AP-1 complex. (J:230572)
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
