Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2569 | 7930;7931;7932 | chr2:178773259;178773258;178773257 | chr2:179637986;179637985;179637984 |
| N2AB | 2569 | 7930;7931;7932 | chr2:178773259;178773258;178773257 | chr2:179637986;179637985;179637984 |
| N2A | 2569 | 7930;7931;7932 | chr2:178773259;178773258;178773257 | chr2:179637986;179637985;179637984 |
| N2B | 2523 | 7792;7793;7794 | chr2:178773259;178773258;178773257 | chr2:179637986;179637985;179637984 |
| Novex-1 | 2523 | 7792;7793;7794 | chr2:178773259;178773258;178773257 | chr2:179637986;179637985;179637984 |
| Novex-2 | 2523 | 7792;7793;7794 | chr2:178773259;178773258;178773257 | chr2:179637986;179637985;179637984 |
| Novex-3 | 2569 | 7930;7931;7932 | chr2:178773259;178773258;178773257 | chr2:179637986;179637985;179637984 |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs2091797689  |
None | 0.027 | N | 0.251 | 0.1 | 0.16115917748 | gnomAD-4.0.0 | 1.59094E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85688E-06 | 0 | 0 |
| D/V | None | None | 0.484 | N | 0.415 | 0.202 | 0.239305524855 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2004 | likely_benign | 0.2093 | benign | -0.25 | Destabilizing | 0.027 | N | 0.296 | neutral | N | 0.453349168 | None | None | N |
| D/C | 0.5186 | ambiguous | 0.5313 | ambiguous | 0.011 | Stabilizing | 0.935 | D | 0.373 | neutral | None | None | None | None | N |
| D/E | 0.1276 | likely_benign | 0.135 | benign | -0.232 | Destabilizing | 0.027 | N | 0.251 | neutral | N | 0.447021404 | None | None | N |
| D/F | 0.6213 | likely_pathogenic | 0.6333 | pathogenic | -0.222 | Destabilizing | 0.791 | D | 0.374 | neutral | None | None | None | None | N |
| D/G | 0.0757 | likely_benign | 0.0765 | benign | -0.451 | Destabilizing | None | N | 0.154 | neutral | N | 0.312349747 | None | None | N |
| D/H | 0.2274 | likely_benign | 0.2376 | benign | -0.134 | Destabilizing | 0.317 | N | 0.329 | neutral | N | 0.45352837 | None | None | N |
| D/I | 0.495 | ambiguous | 0.5047 | ambiguous | 0.231 | Stabilizing | 0.555 | D | 0.391 | neutral | None | None | None | None | N |
| D/K | 0.2671 | likely_benign | 0.2794 | benign | 0.153 | Stabilizing | 0.001 | N | 0.217 | neutral | None | None | None | None | N |
| D/L | 0.418 | ambiguous | 0.4269 | ambiguous | 0.231 | Stabilizing | 0.38 | N | 0.422 | neutral | None | None | None | None | N |
| D/M | 0.584 | likely_pathogenic | 0.606 | pathogenic | 0.366 | Stabilizing | 0.935 | D | 0.365 | neutral | None | None | None | None | N |
| D/N | 0.074 | likely_benign | 0.0757 | benign | -0.023 | Destabilizing | None | N | 0.148 | neutral | N | 0.397277626 | None | None | N |
| D/P | 0.864 | likely_pathogenic | 0.857 | pathogenic | 0.093 | Stabilizing | 0.555 | D | 0.357 | neutral | None | None | None | None | N |
| D/Q | 0.2396 | likely_benign | 0.2552 | benign | 0.014 | Stabilizing | 0.38 | N | 0.295 | neutral | None | None | None | None | N |
| D/R | 0.3145 | likely_benign | 0.3249 | benign | 0.318 | Stabilizing | 0.081 | N | 0.367 | neutral | None | None | None | None | N |
| D/S | 0.1145 | likely_benign | 0.1172 | benign | -0.175 | Destabilizing | 0.035 | N | 0.223 | neutral | None | None | None | None | N |
| D/T | 0.2694 | likely_benign | 0.2704 | benign | -0.025 | Destabilizing | 0.149 | N | 0.28 | neutral | None | None | None | None | N |
| D/V | 0.324 | likely_benign | 0.3274 | benign | 0.093 | Stabilizing | 0.484 | N | 0.415 | neutral | N | 0.454893956 | None | None | N |
| D/W | 0.7944 | likely_pathogenic | 0.8128 | pathogenic | -0.124 | Destabilizing | 0.935 | D | 0.475 | neutral | None | None | None | None | N |
| D/Y | 0.2159 | likely_benign | 0.2185 | benign | -0.005 | Destabilizing | 0.741 | D | 0.373 | neutral | N | 0.453766363 | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.