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Two point mutations are responsible for the mutant phenotype: a T to C transition at coding nucleotide 395 and an A to T transversion at coding nucleotide 397. These mutations alter the corresponding amino acids 132 and 133 from leucine and serine to proline and cysteine (p.(Leu132_Ser133delinsProCys)). (J:70824)
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
