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!

Im just guessing but typically ribosomes will stop a protein synthesis when they are confused, maybe AGG is an artificial stop codon? genetics isnt my specialty so im guessing for you. someone more knowledgeable will come along and help us both Im sure.

On 9/21/2021 at 4:15 PM, Jaycola13 said:

but AGG is not a stop codon

Vertebrate mitochondria have slightly different code. Here, AGA and AGG both are stop codons.

The LOVD link you posted is misleading because the labels on the right don't line up. The mutated leucine 482 is on the row that starts "ACCTTAAAGGAAACT"

Leucine 482 itself is encoded by TTA. Mutating TTA to TGA forms the stop codon.