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A nucleotide substitution in exon 15 resulted in the amino acid substitution of glycine for leucine at position 604 (L604G). This amino acid is located in a highly conserved motif A in the active site of the polymerase domain. An neo cassette was also inserted into intron 11. Expression was confirmed by western blot analysis on extracts from the liver. (J:129046)
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
