Selected article for: "early stop codon and stop codon"
Title: RESEARCH COMMUNICATIONS OF THE 28th ECVIM-CA CONGRESS
  • Document date: 2018_12_19
    • ID: r79h9yzz_991
    Snippet: Four novel CMAH variants (c.213A>G, c.593A>C, c.898A>G and c.1322delT) were identified beside seven previously reported variants. (c.142G>A, c.268T>A, c.993A>G, c.1269G>A, c.1392T>C, c.1603G>A and Δ‐53). The three previously described variants associated with blood type B (c.142G>A, c.268T>A and c.1603G>A) cosegregated in all Ragdolls. However, only seven cats were homozygous for those mutant alleles. The variant c.1322delT, causing an early s.....
    Document: Four novel CMAH variants (c.213A>G, c.593A>C, c.898A>G and c.1322delT) were identified beside seven previously reported variants. (c.142G>A, c.268T>A, c.993A>G, c.1269G>A, c.1392T>C, c.1603G>A and Δ‐53). The three previously described variants associated with blood type B (c.142G>A, c.268T>A and c.1603G>A) cosegregated in all Ragdolls. However, only seven cats were homozygous for those mutant alleles. The variant c.1322delT, causing an early stop codon at p.L411*, was found homozygously in another 7 type B cats. The remaining 12 type B Ragdolls were compound heterozygotes for c.268T>A and c.1322delT. No type A cats were homozygous for any one of these variants.

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