Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
TTN
Titin




2q31
* Congenital myopathy with fatal cardiomyopathy - (1.33, 3.25, 3.29, 3.30, 4.4, 5.10, 10.8, 10.45, 12.98)
* Centronuclear myopathy related to TTN - (1.33, 3.25, 3.29, 3.30, 4.4, 5.10, 10.8, 10.45, 12.98)
* LGMDR10 (Formerly LGMD2J) - (1.33, 3.25, 3.29, 3.30, 4.4, 5.10, 10.8, 10.45, 12.98)
* Lethal Congenital Contracture Syndrome related to TTN - (1.33, 3.25, 3.29, 3.30, 4.4, 5.10, 10.8, 10.45, 12.98)
* Cardiomyopathy, familial hypertrophic, 9 - CMH9 (1.33, 3.25, 3.29, 3.30, 4.4, 5.10, 10.8, 10.45, 12.98)
* Tibial muscular dystrophy, tardive - TMD (1.33, 3.25, 3.29, 3.30, 4.4, 5.10, 10.8, 10.45, 12.98)
* Hereditary myopathy with early respiratory failure - HMERF (1.33, 3.25, 3.29, 3.30, 4.4, 5.10, 10.8, 10.45, 12.98)
* Autosomal dominant myopathy with proximal muscle weakness and early respiratory - (1.33, 3.25, 3.29, 3.30, 4.4, 5.10, 10.8, 10.45, 12.98)
* Cardiomyopathy, dilated, 1G - CMD1G (1.33, 3.25, 3.29, 3.30, 4.4, 5.10, 10.8, 10.45, 12.98)
* Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J (1.33, 3.25, 3.29, 3.30, 4.4, 5.10, 10.8, 10.45, 12.98)
* Congenital myopathy 5 with cardiomyopathy (formerly Salih myopathy) - CMYP5 (SALMY) (1.33, 3.25, 3.29, 3.30, 4.4, 5.10, 10.8, 10.45, 12.98)