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Anyone have TNN mutations?

My wife recently found out she has 3 mutations on her TNN ?genome/sequence? She was born with a muscle myopathy, and has heart an respiratory issues.

If you do have a TNN mutation I am looking for 3 things:

-a link to a "normal" TNN sequence
-What health issues do you currently experience?
-where in the sequence is your mutation?

-Cheers
1 Responses
Avatar universal
So I just noticed it says TNN... Should say TTN, iPad autocorrect ftw.

My wife's mutations are as follows:
1-A Pathogenic variant, c.107377+1G>A (Splice donor)
2-A likely Pathogenic variant, c.100390G>T (p.Glu33464*)
3- a Variant of Uncertain Significance, c.104952A>C (p.Glu34984Asp)

We weren't able to find out if these mutations were on the same or opposite chromosomes.

Here is a link to the full name of chemicals in Titin: https://en.m.wiktionary.org/wiki/Appendix:List_of_protologisms/Long_words/Titin

But again I have no idea which chemical each mutation corresponds to.
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