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Genomic sequence analysis of the coding region revealed a G-to-A missense mutation at coding cDNA nucleotide position 866 (c.866G>A) resulting in a nonconservative amino acid substitution of a glycine by an aspartic acid residue at position 289 of the encoded protein (p.G289D). (J:72108)
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
