Literature summary for 2.7.11.1 extracted from

Brook, J.D.; McCurrach, M.E.; Harley, H.G.; Buckler, A.J.; Church, D.; Aburatani, H.; Hunter, K.; Stanton, V.P.; Thirion, J.P.; Hudson, T.; et al.
Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member (1992), Cell, 68, 799-808.

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Protein Variants

Protein Variants	Comment	Organism
additional information	a CTG triplet repeat undergoes expansion in myotonic dystrophy patients. This sequence is highly variable in the normal population, unaffected individuals have been 5 and 27 copies, myotonic dystrophy patients are minimally affected have at least 50 repeats, more severely affected patients have expansion of the repeat containing segment up to several kilobase pairs	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q09013	-	-

Synonyms

Synonyms	Comment	Organism
myotonin-protein kinase	-	Homo sapiens

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Release 2023.1 (January 2023)