Table 3 Rare TTN missense variant classified as deleterious by in-silico prediction.
SYMBOL | Position | Nucleotide Change | AA Change | EXON | DCM (n) | ExAC (n) | gnomAD (n) |
|---|---|---|---|---|---|---|---|
Z-disk | |||||||
TTN | 179664242 | c.886 G > A | Val296Met | 6 | 1 | 0 | 0 |
I-band | |||||||
TTN | 179640476 | c.6115 C > T | Leu2039Phe | 28 | 1 | 0 | 0 |
TTN | 179634837 | c.8591 A > G | Tyr2864Cys | 36 | 1 | 0 | 0 |
TTN | 179634555 | c.8753 G > C | Gly2918Ala | 37 | 1 | 1 | 2 |
TTN | 179632835 | c.9211 G > C | Glu3071Gln | 39 | 1 | 2 | 4 |
TTN | 179588312 | c.21515 G > T | Arg7172Ile | 74 | 3 | 0 | 0 |
TTN | 179576946 | c.27611 C > T | Pro9204Leu | 96 | 1 | 1 | 2 |
TTN | 179574299 | c.28747 A > T | Ile9583Phe | 99 | 1 | 0 | 0 |
TTN | 179494979 | c.44270 T > A | Leu14757His | 239 | 2 | 0 | 0 |
A-band | |||||||
TTN | 179477634 | c.49814 T > G | Val16605Gly | 265 | 6 | 0 | 0 |
TTN | 179476201 | c.50755 G > T | Val16919Phe | 269 | 1 | 0 | 0 |
TTN | 179472191 | c.53224 T > A | Tyr17742Asn | 277 | 1 | 0 | 0 |
TTN | 179452778 | c.63356 G > A | Cys21119Tyr | 305 | 1 | 1 | 1 |
TTN | 179441303 | c.69668 G > C | Gly23223Ala | 325 | 1 | 0 | 0 |
TTN | 179425479 | c.85380 A > G | Ile28460Met | 326 | 1 | 1 | 3 |
TTN | 179429090 | c.81769 C > A | Pro27257Thr | 326 | 0 | 0 | 0 |
TTN | 179432751 | c.78108 G > C | Leu26036Phe | 326 | 1 | 0 | 1 |
TTN | 179435376 | c.75483 G > C | Lys25161Asn | 326 | 1 | 0 | 1 |
TTN | 179436260 | c.74599 A > G | Thr24867Ala | 326 | 1 | 0 | 0 |
TTN | 179439256 | c.71603 G > A | Arg23868Gln | 326 | 1 | 1 | 2 |
TTN | 179439440 | c.71419 T > C | Tyr23807His | 326 | 1 | 0 | 0 |
TTN | 179419452 | c.88622 T > C | Ile29541Thr | 332 | 1 | 1 | 4 |
TTN | 179416971 | c.90656 T > A | Val30219Asp | 335 | 1 | 0 | 0 |
TTN | 179417593 | c.90034 G > A | Glu30012Lys | 335 | 1 | 0 | 0 |
TTN | 179418010 | c.89617 T > C | Trp29873Arg | 335 | 1 | 0 | 0 |
TTN | 179414844 | c.91721 A > T | Glu30574Val | 337 | 2 | 0 | 1 |
TTN | 179414390 | c.92059 G > A | Gly30687Ser | 338 | 1 | 2 | 4 |
TTN | 179411891 | c.94361 T > C | Leu31454Pro | 340 | 1 | 0 | 0 |
TTN | 179403949 | c.98713 G > A | Glu32905Lys | 353 | 1 | 1 | 3 |