Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10 | 253;254;255 | chr2:178804615;178804614;178804613 | chr2:179669342;179669341;179669340 |
| N2AB | 10 | 253;254;255 | chr2:178804615;178804614;178804613 | chr2:179669342;179669341;179669340 |
| N2A | 10 | 253;254;255 | chr2:178804615;178804614;178804613 | chr2:179669342;179669341;179669340 |
| N2B | 10 | 253;254;255 | chr2:178804615;178804614;178804613 | chr2:179669342;179669341;179669340 |
| Novex-1 | 10 | 253;254;255 | chr2:178804615;178804614;178804613 | chr2:179669342;179669341;179669340 |
| Novex-2 | 10 | 253;254;255 | chr2:178804615;178804614;178804613 | chr2:179669342;179669341;179669340 |
| Novex-3 | 10 | 253;254;255 | chr2:178804615;178804614;178804613 | chr2:179669342;179669341;179669340 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | None | None | 0.754 | D | 0.349 | 0.403 | 0.508163421412 | gnomAD-4.0.0 | 1.59093E-06 | None | None | None | -0.628(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85721E-06 | 0 | 0 |
| Q/R | None | None | 0.124 | N | 0.285 | 0.294 | 0.198526703765 | gnomAD-4.0.0 | 1.59096E-06 | None | None | None | -1.612(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85726E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2877 | likely_benign | 0.2267 | benign | -0.498 | Destabilizing | 0.229 | N | 0.361 | neutral | None | None | None | -0.92(TCAP) | N |
| Q/C | 0.908 | likely_pathogenic | 0.8513 | pathogenic | 0.19 | Stabilizing | 0.972 | D | 0.375 | neutral | None | None | None | -0.857(TCAP) | N |
| Q/D | 0.6072 | likely_pathogenic | 0.4689 | ambiguous | -0.449 | Destabilizing | 0.301 | N | 0.269 | neutral | None | None | None | -1.225(TCAP) | N |
| Q/E | 0.1144 | likely_benign | 0.0925 | benign | -0.394 | Destabilizing | 0.156 | N | 0.311 | neutral | N | 0.512434821 | None | -1.21(TCAP) | N |
| Q/F | 0.8214 | likely_pathogenic | 0.6994 | pathogenic | -0.227 | Destabilizing | 0.737 | D | 0.397 | neutral | None | None | None | -1.215(TCAP) | N |
| Q/G | 0.4481 | ambiguous | 0.3512 | ambiguous | -0.822 | Destabilizing | 0.418 | N | 0.357 | neutral | None | None | None | -1.003(TCAP) | N |
| Q/H | 0.3457 | ambiguous | 0.2485 | benign | -0.748 | Destabilizing | 0.754 | D | 0.349 | neutral | D | 0.583232889 | None | -0.628(TCAP) | N |
| Q/I | 0.5261 | ambiguous | 0.3871 | ambiguous | 0.316 | Stabilizing | 0.501 | D | 0.369 | neutral | None | None | None | -0.714(TCAP) | N |
| Q/K | 0.1194 | likely_benign | 0.1001 | benign | -0.438 | Destabilizing | 0.006 | N | 0.116 | neutral | N | 0.461484163 | None | -1.231(TCAP) | N |
| Q/L | 0.2207 | likely_benign | 0.1597 | benign | 0.316 | Stabilizing | 0.001 | N | 0.185 | neutral | N | 0.519087635 | None | -0.714(TCAP) | N |
| Q/M | 0.512 | ambiguous | 0.4047 | ambiguous | 0.717 | Stabilizing | 0.667 | D | 0.355 | neutral | None | None | None | -0.507(TCAP) | N |
| Q/N | 0.458 | ambiguous | 0.3391 | benign | -0.737 | Destabilizing | 0.177 | N | 0.321 | neutral | None | None | None | -1.523(TCAP) | N |
| Q/P | 0.7143 | likely_pathogenic | 0.6426 | pathogenic | 0.076 | Stabilizing | 0.698 | D | 0.373 | neutral | D | 0.594416834 | None | -0.773(TCAP) | N |
| Q/R | 0.1412 | likely_benign | 0.114 | benign | -0.34 | Destabilizing | 0.124 | N | 0.285 | neutral | N | 0.487024632 | None | -1.612(TCAP) | N |
| Q/S | 0.3302 | likely_benign | 0.2442 | benign | -0.786 | Destabilizing | 0.019 | N | 0.107 | neutral | None | None | None | -1.296(TCAP) | N |
| Q/T | 0.2678 | likely_benign | 0.1962 | benign | -0.56 | Destabilizing | 0.027 | N | 0.329 | neutral | None | None | None | -1.256(TCAP) | N |
| Q/V | 0.3284 | likely_benign | 0.2435 | benign | 0.076 | Stabilizing | 0.079 | N | 0.35 | neutral | None | None | None | -0.773(TCAP) | N |
| Q/W | 0.7761 | likely_pathogenic | 0.6562 | pathogenic | -0.163 | Destabilizing | 0.994 | D | 0.417 | neutral | None | None | None | -1.719(TCAP) | N |
| Q/Y | 0.663 | likely_pathogenic | 0.4935 | ambiguous | 0.026 | Stabilizing | 0.945 | D | 0.385 | neutral | None | None | None | -1.348(TCAP) | 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.