Literature summary for 4.1.3.4 extracted from

Puisac, B.; Lopez-Vinas, E.; Moreno, S.; Mir, C.; Perez-Cerda, C.; Menao, S.; Lluch, D.; Pie, A.; Gomez-Puertas, P.; Casals, N.; Ugarte, M.; Hegardt, F.; Pie, J.
Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL (2005), Biophys. Chem., 115, 241-245.

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Protein Variants

Protein Variants	Comment	Organism
G109T	Spanish patients with the Mediterranean nonsense mutation G109T. The mutation can produce aberrant splicing with three mRNA variants: one of the expected size, the second with deletion of exon 2, and the third with deletion of exons 2 and 3	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	Spanish patients with the Mediterranean nonsense mutation G109T. The mutation can produce aberrant splicing with three mRNA variants: one of the expected size, the second with deletion of exon 2, and the third with deletion of exons 2 and 3	-

Synonyms

Synonyms	Comment	Organism
HMG-CoA lyase	-	Homo sapiens

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Release 2023.1 (January 2023)