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EN
ENU mutagenesis resulted in an A>G point mutation in exon 34, resulting in the replacement of a positively charged lysine residue, located at the Yaa position (950), with a negatively charged glutamic acid (p.K950E). As it is located in the first Gly-Xaa-Yaa repeat following a major interruption of the repeats by non-repeat sequence, it may affect the structure at this highly flexible site. (J:102749)
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
