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Everything posted by Jaycola13

  1. I'm trying to understand the basics of my mutation. I have all the information - but I'm having a hard time making sense of it. Here is the report... "FH, Exon 10, c.1445T>G (p.Leu482*) "This sequence change creates a premature translational stop signal (p.Leu482*) in the FH gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 29 amino acid(s) of the FH protein." Now when I look at exon 10 in the database https://databases.lovd.nl/shared/refseq/FH_NM_000143.3_codingDNA.html. 1445 is ATG, and mutation makes it AGG. But my report says it creates a premature stop codon, but AGG is not a stop codon. It also says it disrupts that last 29 amino acids, but there are 45 amino acids listed after the mutation. I'm clearly misunderstanding something. Any help would be appreciated. Thank you!
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