Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35498 | 106717;106718;106719 | chr2:178529999;178529998;178529997 | chr2:179394726;179394725;179394724 |
| N2AB | 33857 | 101794;101795;101796 | chr2:178529999;178529998;178529997 | chr2:179394726;179394725;179394724 |
| N2A | 32930 | 99013;99014;99015 | chr2:178529999;178529998;178529997 | chr2:179394726;179394725;179394724 |
| N2B | 26433 | 79522;79523;79524 | chr2:178529999;178529998;178529997 | chr2:179394726;179394725;179394724 |
| Novex-1 | 26558 | 79897;79898;79899 | chr2:178529999;178529998;178529997 | chr2:179394726;179394725;179394724 |
| Novex-2 | 26625 | 80098;80099;80100 | chr2:178529999;178529998;178529997 | chr2:179394726;179394725;179394724 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs878879036  |
None | 0.986 | N | 0.564 | 0.502 | None | gnomAD-4.0.0 | 1.37841E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.20858E-05 | 1.666E-05 |
| A/S | None | None | 0.867 | N | 0.517 | 0.191 | 0.258779203287 | gnomAD-4.0.0 | 6.89206E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01359E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6249 | likely_pathogenic | 0.5897 | pathogenic | -0.822 | Destabilizing | 0.997 | D | 0.574 | neutral | None | None | None | None | I |
| A/D | 0.3826 | ambiguous | 0.3424 | ambiguous | -0.378 | Destabilizing | 0.986 | D | 0.647 | neutral | N | 0.491167421 | None | None | I |
| A/E | 0.302 | likely_benign | 0.2732 | benign | -0.532 | Destabilizing | 0.968 | D | 0.522 | neutral | None | None | None | None | I |
| A/F | 0.2772 | likely_benign | 0.2544 | benign | -0.895 | Destabilizing | 0.937 | D | 0.647 | neutral | None | None | None | None | I |
| A/G | 0.2089 | likely_benign | 0.1981 | benign | -0.215 | Destabilizing | 0.867 | D | 0.502 | neutral | D | 0.526672289 | None | None | I |
| A/H | 0.5195 | ambiguous | 0.4937 | ambiguous | -0.221 | Destabilizing | 0.997 | D | 0.667 | neutral | None | None | None | None | I |
| A/I | 0.2684 | likely_benign | 0.2449 | benign | -0.393 | Destabilizing | 0.68 | D | 0.515 | neutral | None | None | None | None | I |
| A/K | 0.5198 | ambiguous | 0.4812 | ambiguous | -0.467 | Destabilizing | 0.968 | D | 0.523 | neutral | None | None | None | None | I |
| A/L | 0.2216 | likely_benign | 0.2029 | benign | -0.393 | Destabilizing | 0.468 | N | 0.529 | neutral | None | None | None | None | I |
| A/M | 0.2761 | likely_benign | 0.2554 | benign | -0.487 | Destabilizing | 0.968 | D | 0.579 | neutral | None | None | None | None | I |
| A/N | 0.3605 | ambiguous | 0.3194 | benign | -0.204 | Destabilizing | 0.989 | D | 0.652 | neutral | None | None | None | None | I |
| A/P | 0.7764 | likely_pathogenic | 0.7514 | pathogenic | -0.306 | Destabilizing | 0.986 | D | 0.564 | neutral | N | 0.502523726 | None | None | I |
| A/Q | 0.3885 | ambiguous | 0.3698 | ambiguous | -0.465 | Destabilizing | 0.989 | D | 0.571 | neutral | None | None | None | None | I |
| A/R | 0.4077 | ambiguous | 0.3836 | ambiguous | -0.052 | Destabilizing | 0.968 | D | 0.567 | neutral | None | None | None | None | I |
| A/S | 0.1075 | likely_benign | 0.1042 | benign | -0.401 | Destabilizing | 0.867 | D | 0.517 | neutral | N | 0.502621994 | None | None | I |
| A/T | 0.11 | likely_benign | 0.1024 | benign | -0.479 | Destabilizing | 0.762 | D | 0.513 | neutral | D | 0.536579852 | None | None | I |
| A/V | 0.1277 | likely_benign | 0.1216 | benign | -0.306 | Destabilizing | 0.004 | N | 0.345 | neutral | N | 0.438474515 | None | None | I |
| A/W | 0.7579 | likely_pathogenic | 0.7333 | pathogenic | -0.996 | Destabilizing | 0.997 | D | 0.723 | prob.delet. | None | None | None | None | I |
| A/Y | 0.4987 | ambiguous | 0.4636 | ambiguous | -0.67 | Destabilizing | 0.968 | D | 0.655 | 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.