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CRISPR/Cas9 technology deleted 8 bp (nucleotides 5693-5697; CCACC and nucleotides 5699-5701; CTC) and generated a frameshift after T1898 in the C-terminus and a subsequent stop codon following 26 potentially novel amino acids. Truncation at T1898 eliminates the binding site for the channel auxiliary subunit calmodulin which regulates the persistent Na+ current. Protein truncation variants in the final exon are common to multiple autism spectrum disorder-associated mutations in this gene. (J:311772)
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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References Literature
Title
PMID
Journal
Year
IF
