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This mutation is a small in-frame deletion in exon 2 that results in the loss of exactly one copy of a duplicated 18-nucleotide sequence, which corresponds to the SPPADP (PEST-like domain) sequence of the encoded protein. The mutant protein expressed is 551-amino-acids-long with a small in-frame deletion of six residues in the N terminus. (J:223504)
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
