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The mutation is a dinucleotide transition in adjacent nucleotides (GC to AT) at positions 1972 and 1973 (Genbank Accession NM_010864), in exon 13 of 41 exons, that changes two codons such that two amino acids in the head region of the protein are altered: methionine at amino acid position 515 is replaced by isoleucine (p.M515I) and proline at position 516 by serine (p.P516S). (J:133117)
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
