Here I present: “Cardiomyopathy (hypertrophic)”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 心肌病（肥大）。(HCM).
INTRODUCTION.
What is hypertrophic cardiomyopathy (HCM)? Any disorder that affects the heart muscle is called a cardiomyopathy. Cardiomyopathy causes the heart to lose its ability to pump blood. Hypertrophic means that the cardiac muscle is thick tissue (shown ABOVE). The protein “Titin” is responsible for hypertrophic cardiomyopathy.
Titin is a protein that in humans is encoded by the TTN gene. The protein, which is over 1 μm in length, functions as a molecular spring that is responsible for the passive elasticity of muscle. It comprises 244 individually folded protein domains connected by unstructured peptide sequences. These domains unfold when the protein is stretched and refold when the tension is removed.
There is evidence that the Titin (TTN) gene is on cytogenetic location 2q31.2 and genomic coordinates 2:178,525,989-178,807,423 . The screenshot of the TTN gene 281,435 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides TTN in the 2q31.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 2:178,431,414 | PRKRA, | Protein kinase, interferon-inducible double-stranded RNA-dependent activator |
| 2:178,451,378 | PJVK | Pejvakin |
| 2:178,463,664 | FKBP7 | FK506-binding protein 7 |
| 2:178,480,457 | PLEKHA3 | Pleckstrin protein, family A, member 3 |
| 2:178,525,989 | TTN | Titin |
| 2:178,814,978 | CCDC141 | Coiled-coil domain-containing protein 141 |
| 2:179,441,982 | ZNF385B | Zinc finger protein 385B |
| 2:179,700,001 | DA10 | Arthrogryposis, distal, type 10 |
| 2:179,860,836 | MIR1258 | Micro RNA 1258 |
| 2:179,944,876 | CWC22 | CWC22 spliceosome-associated protein |
