Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8164 | 24715;24716;24717 | chr2:178718710;178718709;178718708 | chr2:179583437;179583436;179583435 |
| N2AB | 7847 | 23764;23765;23766 | chr2:178718710;178718709;178718708 | chr2:179583437;179583436;179583435 |
| N2A | 6920 | 20983;20984;20985 | chr2:178718710;178718709;178718708 | chr2:179583437;179583436;179583435 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| Novex-3 | None | None | chr2:None | chr2:None |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/D | rs367916657  |
-0.678 | 0.002 | N | 0.181 | 0.324 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| H/D | rs367916657 |
-0.678 | 0.002 | N | 0.181 | 0.324 | None | gnomAD-4.0.0 | 2.73731E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59842E-06 | 0 | 0 |
| H/Q | None | None | 0.023 | N | 0.181 | 0.219 | 0.104622674875 | gnomAD-4.0.0 | 6.84376E-06 | None | None | None | None | N | None | 5.97764E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19722E-06 | 0 | 0 |
| H/Y | None | None | 0.917 | D | 0.465 | 0.278 | 0.487277728379 | gnomAD-4.0.0 | 1.36866E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79921E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.2517 | likely_benign | 0.2638 | benign | -0.309 | Destabilizing | 0.176 | N | 0.335 | neutral | None | None | None | None | N |
| H/C | 0.1942 | likely_benign | 0.2099 | benign | 0.209 | Stabilizing | 0.995 | D | 0.563 | neutral | None | None | None | None | N |
| H/D | 0.2295 | likely_benign | 0.246 | benign | 0.186 | Stabilizing | 0.002 | N | 0.181 | neutral | N | 0.510238613 | None | None | N |
| H/E | 0.25 | likely_benign | 0.2608 | benign | 0.212 | Stabilizing | 0.176 | N | 0.251 | neutral | None | None | None | None | N |
| H/F | 0.3439 | ambiguous | 0.3546 | ambiguous | 0.146 | Stabilizing | 0.981 | D | 0.593 | neutral | None | None | None | None | N |
| H/G | 0.3035 | likely_benign | 0.3254 | benign | -0.585 | Destabilizing | 0.495 | N | 0.387 | neutral | None | None | None | None | N |
| H/I | 0.3245 | likely_benign | 0.3333 | benign | 0.398 | Stabilizing | 0.704 | D | 0.624 | neutral | None | None | None | None | N |
| H/K | 0.1866 | likely_benign | 0.1955 | benign | -0.181 | Destabilizing | 0.329 | N | 0.436 | neutral | None | None | None | None | N |
| H/L | 0.1344 | likely_benign | 0.1405 | benign | 0.398 | Stabilizing | 0.425 | N | 0.5 | neutral | N | 0.505659512 | None | None | N |
| H/M | 0.4569 | ambiguous | 0.4727 | ambiguous | 0.347 | Stabilizing | 0.944 | D | 0.569 | neutral | None | None | None | None | N |
| H/N | 0.1052 | likely_benign | 0.1044 | benign | -0.011 | Destabilizing | 0.01 | N | 0.158 | neutral | N | 0.44597649 | None | None | N |
| H/P | 0.2497 | likely_benign | 0.2771 | benign | 0.187 | Stabilizing | 0.784 | D | 0.576 | neutral | N | 0.483312926 | None | None | N |
| H/Q | 0.1315 | likely_benign | 0.1352 | benign | 0.042 | Stabilizing | 0.023 | N | 0.181 | neutral | N | 0.473451093 | None | None | N |
| H/R | 0.0704 | likely_benign | 0.0727 | benign | -0.453 | Destabilizing | 0.473 | N | 0.421 | neutral | N | 0.461407303 | None | None | N |
| H/S | 0.1892 | likely_benign | 0.198 | benign | -0.19 | Destabilizing | 0.037 | N | 0.18 | neutral | None | None | None | None | N |
| H/T | 0.2136 | likely_benign | 0.2207 | benign | -0.066 | Destabilizing | 0.013 | N | 0.284 | neutral | None | None | None | None | N |
| H/V | 0.248 | likely_benign | 0.2512 | benign | 0.187 | Stabilizing | 0.704 | D | 0.545 | neutral | None | None | None | None | N |
| H/W | 0.3973 | ambiguous | 0.4177 | ambiguous | 0.247 | Stabilizing | 0.995 | D | 0.569 | neutral | None | None | None | None | N |
| H/Y | 0.1081 | likely_benign | 0.1083 | benign | 0.587 | Stabilizing | 0.917 | D | 0.465 | neutral | D | 0.532211395 | 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.