Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20202 | 60829;60830;60831 | chr2:178591121;178591120;178591119 | chr2:179455848;179455847;179455846 |
| N2AB | 18561 | 55906;55907;55908 | chr2:178591121;178591120;178591119 | chr2:179455848;179455847;179455846 |
| N2A | 17634 | 53125;53126;53127 | chr2:178591121;178591120;178591119 | chr2:179455848;179455847;179455846 |
| N2B | 11137 | 33634;33635;33636 | chr2:178591121;178591120;178591119 | chr2:179455848;179455847;179455846 |
| Novex-1 | 11262 | 34009;34010;34011 | chr2:178591121;178591120;178591119 | chr2:179455848;179455847;179455846 |
| Novex-2 | 11329 | 34210;34211;34212 | chr2:178591121;178591120;178591119 | chr2:179455848;179455847;179455846 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/R | rs794729468  |
-0.563 | 1.0 | N | 0.779 | 0.408 | 0.362960570912 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14837E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs794729468 |
-0.563 | 1.0 | N | 0.779 | 0.408 | 0.362960570912 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 7.25E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs794729468 |
-0.563 | 1.0 | N | 0.779 | 0.408 | 0.362960570912 | gnomAD-4.0.0 | 5.07584E-06 | None | None | None | None | I | None | 6.9957E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20502E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1659 | likely_benign | 0.158 | benign | -0.569 | Destabilizing | 0.998 | D | 0.58 | neutral | None | None | None | None | I |
| S/C | 0.1421 | likely_benign | 0.1323 | benign | -0.452 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.472044029 | None | None | I |
| S/D | 0.9248 | likely_pathogenic | 0.9191 | pathogenic | -0.529 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | None | None | None | None | I |
| S/E | 0.9264 | likely_pathogenic | 0.9157 | pathogenic | -0.57 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | I |
| S/F | 0.4776 | ambiguous | 0.4384 | ambiguous | -0.932 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| S/G | 0.3336 | likely_benign | 0.3228 | benign | -0.768 | Destabilizing | 0.999 | D | 0.573 | neutral | N | 0.474274711 | None | None | I |
| S/H | 0.759 | likely_pathogenic | 0.7107 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| S/I | 0.4459 | ambiguous | 0.4208 | ambiguous | -0.159 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.513403873 | None | None | I |
| S/K | 0.975 | likely_pathogenic | 0.9641 | pathogenic | -0.76 | Destabilizing | 0.999 | D | 0.7 | prob.neutral | None | None | None | None | I |
| S/L | 0.217 | likely_benign | 0.1826 | benign | -0.159 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| S/M | 0.3133 | likely_benign | 0.2726 | benign | 0.252 | Stabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| S/N | 0.4989 | ambiguous | 0.4449 | ambiguous | -0.669 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | N | 0.483778728 | None | None | I |
| S/P | 0.9847 | likely_pathogenic | 0.9857 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| S/Q | 0.8545 | likely_pathogenic | 0.8307 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| S/R | 0.9634 | likely_pathogenic | 0.9494 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.47928205 | None | None | I |
| S/T | 0.1385 | likely_benign | 0.1393 | benign | -0.673 | Destabilizing | 0.999 | D | 0.583 | neutral | N | 0.505976438 | None | None | I |
| S/V | 0.3854 | ambiguous | 0.3863 | ambiguous | -0.263 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| S/W | 0.746 | likely_pathogenic | 0.7085 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| S/Y | 0.5049 | ambiguous | 0.4281 | ambiguous | -0.645 | Destabilizing | 1.0 | D | 0.806 | deleterious | 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.