Homo sapiens titin (TTN), transcript variant novex-1, mRNA

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Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene. [Neuromuscul Disord. 2024]
Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene.
Perna A, Bosco L, Fattori F, Torchia E, Modoni A, Papacci M, Petrucci A, Tasca G, Ricci E, Bertini ES, et al. Neuromuscul Disord. 2024 Apr; 37:1-5. Epub 2024 Feb 8.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. [Nat Genet. 2024]
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, et al. Nat Genet. 2024 Mar; 56(3):395-407. Epub 2024 Mar 1.
The TTN p. Tyr4418Ter mutation causes cardiomyopathy in human and mice. [PLoS One. 2024]
The TTN p. Tyr4418Ter mutation causes cardiomyopathy in human and mice.
Sun W, Liu X, Song L, Tao L, Lai K, Jiang H, Xiao H. PLoS One. 2024; 19(2):e0296802. Epub 2024 Feb 21.

RefSeq alternative splicing
See 37 reference mRNA sequence splice variants for the TTN gene.
RefSeq protein product
See the reference protein sequence for titin isoform novex-1 (NP_597676.3).

Protein
Protein sequence from Nucleotide coding region
PubMed
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Taxonomy
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Annotated Genomic
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