Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1498 | 4717;4718;4719 | chr2:178777573;178777572;178777571 | chr2:179642300;179642299;179642298 |
| N2AB | 1498 | 4717;4718;4719 | chr2:178777573;178777572;178777571 | chr2:179642300;179642299;179642298 |
| N2A | 1498 | 4717;4718;4719 | chr2:178777573;178777572;178777571 | chr2:179642300;179642299;179642298 |
| N2B | 1452 | 4579;4580;4581 | chr2:178777573;178777572;178777571 | chr2:179642300;179642299;179642298 |
| Novex-1 | 1452 | 4579;4580;4581 | chr2:178777573;178777572;178777571 | chr2:179642300;179642299;179642298 |
| Novex-2 | 1452 | 4579;4580;4581 | chr2:178777573;178777572;178777571 | chr2:179642300;179642299;179642298 |
| Novex-3 | 1498 | 4717;4718;4719 | chr2:178777573;178777572;178777571 | chr2:179642300;179642299;179642298 |
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/A | rs878871703  |
None | 0.645 | N | 0.443 | 0.244 | 0.595953376904 | gnomAD-4.0.0 | 4.78917E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39616E-06 | 0 | 1.65607E-05 |
| V/D | rs878871703 |
-0.365 | 0.928 | N | 0.663 | 0.552 | 0.845142582465 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/D | rs878871703 |
-0.365 | 0.928 | N | 0.663 | 0.552 | 0.845142582465 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/D | rs878871703 |
-0.365 | 0.928 | N | 0.663 | 0.552 | 0.845142582465 | gnomAD-4.0.0 | 6.56996E-06 | None | None | None | None | I | None | 2.41196E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | None | None | 0.006 | N | 0.3 | 0.033 | 0.433936292671 | gnomAD-4.0.0 | 1.59105E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85714E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2536 | likely_benign | 0.2408 | benign | -0.403 | Destabilizing | 0.645 | D | 0.443 | neutral | N | 0.483892574 | None | None | I |
| V/C | 0.8072 | likely_pathogenic | 0.7739 | pathogenic | -0.519 | Destabilizing | 0.995 | D | 0.527 | neutral | None | None | None | None | I |
| V/D | 0.492 | ambiguous | 0.4696 | ambiguous | -0.535 | Destabilizing | 0.928 | D | 0.663 | neutral | N | 0.497122817 | None | None | I |
| V/E | 0.3723 | ambiguous | 0.3454 | ambiguous | -0.649 | Destabilizing | 0.945 | D | 0.595 | neutral | None | None | None | None | I |
| V/F | 0.2158 | likely_benign | 0.206 | benign | -0.697 | Destabilizing | 0.864 | D | 0.5 | neutral | N | 0.508366775 | None | None | I |
| V/G | 0.3221 | likely_benign | 0.3079 | benign | -0.522 | Destabilizing | 0.928 | D | 0.65 | neutral | N | 0.484833154 | None | None | I |
| V/H | 0.6223 | likely_pathogenic | 0.5957 | pathogenic | -0.153 | Destabilizing | 0.995 | D | 0.656 | neutral | None | None | None | None | I |
| V/I | 0.0773 | likely_benign | 0.0755 | benign | -0.235 | Destabilizing | 0.006 | N | 0.3 | neutral | N | 0.499920769 | None | None | I |
| V/K | 0.3936 | ambiguous | 0.371 | ambiguous | -0.459 | Destabilizing | 0.945 | D | 0.599 | neutral | None | None | None | None | I |
| V/L | 0.1964 | likely_benign | 0.1901 | benign | -0.235 | Destabilizing | 0.006 | N | 0.305 | neutral | N | 0.495891743 | None | None | I |
| V/M | 0.1693 | likely_benign | 0.1583 | benign | -0.359 | Destabilizing | 0.894 | D | 0.451 | neutral | None | None | None | None | I |
| V/N | 0.3302 | likely_benign | 0.3125 | benign | -0.158 | Destabilizing | 0.981 | D | 0.659 | neutral | None | None | None | None | I |
| V/P | 0.6728 | likely_pathogenic | 0.6732 | pathogenic | -0.258 | Destabilizing | 0.981 | D | 0.604 | neutral | None | None | None | None | I |
| V/Q | 0.3483 | ambiguous | 0.3292 | benign | -0.406 | Destabilizing | 0.981 | D | 0.598 | neutral | None | None | None | None | I |
| V/R | 0.3198 | likely_benign | 0.313 | benign | 0.058 | Stabilizing | 0.945 | D | 0.662 | neutral | None | None | None | None | I |
| V/S | 0.2713 | likely_benign | 0.2578 | benign | -0.438 | Destabilizing | 0.945 | D | 0.591 | neutral | None | None | None | None | I |
| V/T | 0.2243 | likely_benign | 0.2074 | benign | -0.458 | Destabilizing | 0.707 | D | 0.395 | neutral | None | None | None | None | I |
| V/W | 0.8816 | likely_pathogenic | 0.8649 | pathogenic | -0.8 | Destabilizing | 0.995 | D | 0.647 | neutral | None | None | None | None | I |
| V/Y | 0.6453 | likely_pathogenic | 0.6278 | pathogenic | -0.497 | Destabilizing | 0.945 | D | 0.506 | neutral | None | None | None | None | I |
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.