Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24705 | 74338;74339;74340 | chr2:178572019;178572018;178572017 | chr2:179436746;179436745;179436744 |
| N2AB | 23064 | 69415;69416;69417 | chr2:178572019;178572018;178572017 | chr2:179436746;179436745;179436744 |
| N2A | 22137 | 66634;66635;66636 | chr2:178572019;178572018;178572017 | chr2:179436746;179436745;179436744 |
| N2B | 15640 | 47143;47144;47145 | chr2:178572019;178572018;178572017 | chr2:179436746;179436745;179436744 |
| Novex-1 | 15765 | 47518;47519;47520 | chr2:178572019;178572018;178572017 | chr2:179436746;179436745;179436744 |
| Novex-2 | 15832 | 47719;47720;47721 | chr2:178572019;178572018;178572017 | chr2:179436746;179436745;179436744 |
| 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/A | rs751622854  |
None | 0.236 | N | 0.424 | 0.212 | 0.415313616471 | gnomAD-4.0.0 | 6.84428E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99611E-07 | 0 | 0 |
| V/E | rs751622854 |
-0.16 | 0.002 | N | 0.372 | 0.337 | 0.516938183928 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.63E-05 | None | 0 | None | 0 | 0 | 0 |
| V/E | rs751622854 |
-0.16 | 0.002 | N | 0.372 | 0.337 | 0.516938183928 | gnomAD-4.0.0 | 6.84428E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.53011E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs755082167 |
-0.647 | 0.17 | N | 0.406 | 0.127 | 0.377799810692 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.63E-05 | None | 0 | None | 0 | 8.92E-06 | 0 |
| V/M | rs755082167 |
-0.647 | 0.17 | N | 0.406 | 0.127 | 0.377799810692 | gnomAD-4.0.0 | 1.36888E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.53011E-05 | None | 0 | 0 | 0 | 0 | 1.65733E-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 | 0.2502 | likely_benign | 0.269 | benign | -0.524 | Destabilizing | 0.236 | N | 0.424 | neutral | N | 0.423104339 | None | None | I |
| V/C | 0.7828 | likely_pathogenic | 0.8035 | pathogenic | -0.985 | Destabilizing | 0.988 | D | 0.575 | neutral | None | None | None | None | I |
| V/D | 0.5517 | ambiguous | 0.6129 | pathogenic | -0.313 | Destabilizing | 0.811 | D | 0.641 | neutral | None | None | None | None | I |
| V/E | 0.5019 | ambiguous | 0.5489 | ambiguous | -0.396 | Destabilizing | 0.002 | N | 0.372 | neutral | N | 0.413426063 | None | None | I |
| V/F | 0.1914 | likely_benign | 0.1979 | benign | -0.663 | Destabilizing | 0.866 | D | 0.568 | neutral | None | None | None | None | I |
| V/G | 0.2774 | likely_benign | 0.3045 | benign | -0.633 | Destabilizing | 0.897 | D | 0.626 | neutral | N | 0.428280872 | None | None | I |
| V/H | 0.6906 | likely_pathogenic | 0.7199 | pathogenic | -0.023 | Destabilizing | 0.972 | D | 0.667 | prob.neutral | None | None | None | None | I |
| V/I | 0.0784 | likely_benign | 0.0783 | benign | -0.367 | Destabilizing | None | N | 0.239 | neutral | None | None | None | None | I |
| V/K | 0.589 | likely_pathogenic | 0.6216 | pathogenic | -0.548 | Destabilizing | 0.602 | D | 0.629 | neutral | None | None | None | None | I |
| V/L | 0.1898 | likely_benign | 0.2021 | benign | -0.367 | Destabilizing | None | N | 0.196 | neutral | N | 0.50348792 | None | None | I |
| V/M | 0.1449 | likely_benign | 0.1541 | benign | -0.711 | Destabilizing | 0.17 | N | 0.406 | neutral | N | 0.51303291 | None | None | I |
| V/N | 0.3485 | ambiguous | 0.3801 | ambiguous | -0.484 | Destabilizing | 0.31 | N | 0.687 | prob.delet. | None | None | None | None | I |
| V/P | 0.7447 | likely_pathogenic | 0.7431 | pathogenic | -0.39 | Destabilizing | 0.477 | N | 0.673 | prob.neutral | None | None | None | None | I |
| V/Q | 0.4604 | ambiguous | 0.4883 | ambiguous | -0.638 | Destabilizing | 0.518 | D | 0.675 | prob.neutral | None | None | None | None | I |
| V/R | 0.5513 | ambiguous | 0.5862 | pathogenic | -0.082 | Destabilizing | 0.866 | D | 0.688 | prob.delet. | None | None | None | None | I |
| V/S | 0.2542 | likely_benign | 0.2921 | benign | -0.843 | Destabilizing | 0.777 | D | 0.618 | neutral | None | None | None | None | I |
| V/T | 0.2562 | likely_benign | 0.2735 | benign | -0.822 | Destabilizing | 0.286 | N | 0.495 | neutral | None | None | None | None | I |
| V/W | 0.8812 | likely_pathogenic | 0.8895 | pathogenic | -0.715 | Destabilizing | 0.998 | D | 0.711 | prob.delet. | None | None | None | None | I |
| V/Y | 0.6072 | likely_pathogenic | 0.6321 | pathogenic | -0.464 | Destabilizing | 0.976 | D | 0.574 | 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.