Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16298 | 49117;49118;49119 | chr2:178614622;178614621;178614620 | chr2:179479349;179479348;179479347 |
| N2AB | 14657 | 44194;44195;44196 | chr2:178614622;178614621;178614620 | chr2:179479349;179479348;179479347 |
| N2A | 13730 | 41413;41414;41415 | chr2:178614622;178614621;178614620 | chr2:179479349;179479348;179479347 |
| N2B | 7233 | 21922;21923;21924 | chr2:178614622;178614621;178614620 | chr2:179479349;179479348;179479347 |
| Novex-1 | 7358 | 22297;22298;22299 | chr2:178614622;178614621;178614620 | chr2:179479349;179479348;179479347 |
| Novex-2 | 7425 | 22498;22499;22500 | chr2:178614622;178614621;178614620 | chr2:179479349;179479348;179479347 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | rs778200357  |
-0.652 | 0.029 | N | 0.319 | 0.09 | 0.503186968135 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 0 | 1.16353E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/F | rs778200357 |
-0.652 | 0.029 | N | 0.319 | 0.09 | 0.503186968135 | gnomAD-4.0.0 | 7.96968E-06 | None | None | None | None | N | None | 0 | 1.14563E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.2141 | likely_benign | 0.2198 | benign | -0.697 | Destabilizing | 0.031 | N | 0.322 | neutral | None | None | None | None | N |
| I/C | 0.5708 | likely_pathogenic | 0.5866 | pathogenic | -0.476 | Destabilizing | 0.628 | D | 0.389 | neutral | None | None | None | None | N |
| I/D | 0.5194 | ambiguous | 0.4918 | ambiguous | -0.229 | Destabilizing | 0.628 | D | 0.443 | neutral | None | None | None | None | N |
| I/E | 0.3266 | likely_benign | 0.3333 | benign | -0.319 | Destabilizing | 0.356 | N | 0.43 | neutral | None | None | None | None | N |
| I/F | 0.199 | likely_benign | 0.2101 | benign | -0.694 | Destabilizing | 0.029 | N | 0.319 | neutral | N | 0.509549711 | None | None | N |
| I/G | 0.5206 | ambiguous | 0.5185 | ambiguous | -0.884 | Destabilizing | 0.136 | N | 0.397 | neutral | None | None | None | None | N |
| I/H | 0.3323 | likely_benign | 0.3643 | ambiguous | -0.236 | Destabilizing | 0.864 | D | 0.429 | neutral | None | None | None | None | N |
| I/K | 0.2206 | likely_benign | 0.2374 | benign | -0.365 | Destabilizing | 0.136 | N | 0.401 | neutral | None | None | None | None | N |
| I/L | 0.0725 | likely_benign | 0.0794 | benign | -0.323 | Destabilizing | None | N | 0.129 | neutral | N | 0.367141146 | None | None | N |
| I/M | 0.1031 | likely_benign | 0.1029 | benign | -0.301 | Destabilizing | 0.093 | N | 0.403 | neutral | N | 0.488805099 | None | None | N |
| I/N | 0.1718 | likely_benign | 0.1707 | benign | -0.074 | Destabilizing | 0.56 | D | 0.439 | neutral | N | 0.476770284 | None | None | N |
| I/P | 0.2138 | likely_benign | 0.2302 | benign | -0.414 | Destabilizing | 0.628 | D | 0.441 | neutral | None | None | None | None | N |
| I/Q | 0.2292 | likely_benign | 0.2553 | benign | -0.311 | Destabilizing | 0.628 | D | 0.437 | neutral | None | None | None | None | N |
| I/R | 0.2097 | likely_benign | 0.2362 | benign | 0.184 | Stabilizing | 0.356 | N | 0.432 | neutral | None | None | None | None | N |
| I/S | 0.2282 | likely_benign | 0.2371 | benign | -0.533 | Destabilizing | 0.106 | N | 0.385 | neutral | N | 0.45118298 | None | None | N |
| I/T | 0.1994 | likely_benign | 0.1872 | benign | -0.513 | Destabilizing | 0.055 | N | 0.306 | neutral | N | 0.417522977 | None | None | N |
| I/V | 0.0701 | likely_benign | 0.067 | benign | -0.414 | Destabilizing | None | N | 0.136 | neutral | N | 0.392932185 | None | None | N |
| I/W | 0.7725 | likely_pathogenic | 0.7879 | pathogenic | -0.724 | Destabilizing | 0.864 | D | 0.468 | neutral | None | None | None | None | N |
| I/Y | 0.4307 | ambiguous | 0.467 | ambiguous | -0.467 | Destabilizing | 0.356 | N | 0.408 | neutral | None | None | 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.