Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8411 | 25456;25457;25458 | chr2:178717643;178717642;178717641 | chr2:179582370;179582369;179582368 |
| N2AB | 8094 | 24505;24506;24507 | chr2:178717643;178717642;178717641 | chr2:179582370;179582369;179582368 |
| N2A | 7167 | 21724;21725;21726 | chr2:178717643;178717642;178717641 | chr2:179582370;179582369;179582368 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs760523669  |
-0.057 | 0.001 | N | 0.124 | 0.039 | 0.417334834585 | gnomAD-2.1.1 | 6.06E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 6.51951E-04 | 8.93E-06 | 0 |
| V/I | rs760523669 |
-0.057 | 0.001 | N | 0.124 | 0.039 | 0.417334834585 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 6.59631E-04 | 0 | 0 | 0 | 4.78011E-04 |
| V/I | rs760523669 |
-0.057 | 0.001 | N | 0.124 | 0.039 | 0.417334834585 | gnomAD-4.0.0 | 4.21531E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.69131E-04 | 0 | 2.96723E-05 | 0 | 4.80584E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1973 | likely_benign | 0.2613 | benign | -0.636 | Destabilizing | 0.183 | N | 0.196 | neutral | N | 0.485092239 | None | None | N |
| V/C | 0.7291 | likely_pathogenic | 0.748 | pathogenic | -0.576 | Destabilizing | 0.983 | D | 0.294 | neutral | None | None | None | None | N |
| V/D | 0.2635 | likely_benign | 0.3577 | ambiguous | -0.339 | Destabilizing | 0.001 | N | 0.192 | neutral | N | 0.417424452 | None | None | N |
| V/E | 0.2266 | likely_benign | 0.3032 | benign | -0.421 | Destabilizing | 0.01 | N | 0.215 | neutral | None | None | None | None | N |
| V/F | 0.1252 | likely_benign | 0.1574 | benign | -0.683 | Destabilizing | 0.655 | D | 0.359 | neutral | D | 0.533270188 | None | None | N |
| V/G | 0.2227 | likely_benign | 0.3049 | benign | -0.81 | Destabilizing | 0.523 | D | 0.365 | neutral | N | 0.477878265 | None | None | N |
| V/H | 0.3773 | ambiguous | 0.4807 | ambiguous | -0.266 | Destabilizing | 0.836 | D | 0.384 | neutral | None | None | None | None | N |
| V/I | 0.0656 | likely_benign | 0.069 | benign | -0.308 | Destabilizing | 0.001 | N | 0.124 | neutral | N | 0.47643547 | None | None | N |
| V/K | 0.2967 | likely_benign | 0.3852 | ambiguous | -0.529 | Destabilizing | 0.264 | N | 0.346 | neutral | None | None | None | None | N |
| V/L | 0.1286 | likely_benign | 0.1493 | benign | -0.308 | Destabilizing | 0.001 | N | 0.096 | neutral | N | 0.466930553 | None | None | N |
| V/M | 0.1442 | likely_benign | 0.1725 | benign | -0.383 | Destabilizing | 0.716 | D | 0.313 | neutral | None | None | None | None | N |
| V/N | 0.2088 | likely_benign | 0.2799 | benign | -0.29 | Destabilizing | 0.418 | N | 0.427 | neutral | None | None | None | None | N |
| V/P | 0.7286 | likely_pathogenic | 0.8001 | pathogenic | -0.382 | Destabilizing | 0.94 | D | 0.448 | neutral | None | None | None | None | N |
| V/Q | 0.2297 | likely_benign | 0.2987 | benign | -0.498 | Destabilizing | 0.061 | N | 0.213 | neutral | None | None | None | None | N |
| V/R | 0.2367 | likely_benign | 0.3065 | benign | None | Stabilizing | 0.716 | D | 0.466 | neutral | None | None | None | None | N |
| V/S | 0.1698 | likely_benign | 0.2371 | benign | -0.684 | Destabilizing | 0.418 | N | 0.294 | neutral | None | None | None | None | N |
| V/T | 0.1852 | likely_benign | 0.2422 | benign | -0.662 | Destabilizing | 0.418 | N | 0.155 | neutral | None | None | None | None | N |
| V/W | 0.6649 | likely_pathogenic | 0.7363 | pathogenic | -0.783 | Destabilizing | 0.983 | D | 0.415 | neutral | None | None | None | None | N |
| V/Y | 0.3992 | ambiguous | 0.4562 | ambiguous | -0.493 | Destabilizing | 0.836 | D | 0.33 | 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.