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CRISPR/Cas9 technology generated a C to T change at position 344, resulting in an alanine to valine substitution at amino acid 115 (p.A115V). This is the most commonly observed mutation in patients with methylmalonic aciduria and homocystinuria cblX type. (J:317822)
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
