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EN
The mutaion is a T-to-G transversion at nucleotide position 676 of the gene (Genbank: XM_128139), in the second exon. It results in replacement of asparagine by lysine at amino acid position 131 (N131K), the terminal amino acid of the loop between the first and second alpha-helices (sometimes considered the first aa of helix II) in the DNA-binding HMG domain of the protein. (J:132358)
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
