Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29655 | 89188;89189;89190 | chr2:178554148;178554147;178554146 | chr2:179418875;179418874;179418873 |
| N2AB | 28014 | 84265;84266;84267 | chr2:178554148;178554147;178554146 | chr2:179418875;179418874;179418873 |
| N2A | 27087 | 81484;81485;81486 | chr2:178554148;178554147;178554146 | chr2:179418875;179418874;179418873 |
| N2B | 20590 | 61993;61994;61995 | chr2:178554148;178554147;178554146 | chr2:179418875;179418874;179418873 |
| Novex-1 | 20715 | 62368;62369;62370 | chr2:178554148;178554147;178554146 | chr2:179418875;179418874;179418873 |
| Novex-2 | 20782 | 62569;62570;62571 | chr2:178554148;178554147;178554146 | chr2:179418875;179418874;179418873 |
| 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/G | None | None | 0.012 | N | 0.209 | 0.073 | 0.126345400529 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | I | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs1387331840  |
-0.434 | None | N | 0.153 | 0.189 | 0.0297737177859 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.99E-06 | 0 |
| S/N | rs1387331840 |
-0.434 | None | N | 0.153 | 0.189 | 0.0297737177859 | gnomAD-4.0.0 | 4.77617E-06 | None | None | None | None | I | None | 0 | 2.2898E-05 | None | 0 | 0 | None | 0 | 0 | 5.71788E-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 | 0.0807 | likely_benign | 0.0797 | benign | -0.59 | Destabilizing | 0.014 | N | 0.173 | neutral | None | None | None | None | I |
| S/C | 0.0817 | likely_benign | 0.086 | benign | -0.471 | Destabilizing | 0.828 | D | 0.451 | neutral | D | 0.522716759 | None | None | I |
| S/D | 0.1627 | likely_benign | 0.1737 | benign | 0.034 | Stabilizing | None | N | 0.167 | neutral | None | None | None | None | I |
| S/E | 0.2298 | likely_benign | 0.2354 | benign | 0.033 | Stabilizing | None | N | 0.126 | neutral | None | None | None | None | I |
| S/F | 0.2489 | likely_benign | 0.2515 | benign | -0.841 | Destabilizing | 0.628 | D | 0.502 | neutral | None | None | None | None | I |
| S/G | 0.0626 | likely_benign | 0.0635 | benign | -0.832 | Destabilizing | 0.012 | N | 0.209 | neutral | N | 0.496338235 | None | None | I |
| S/H | 0.1778 | likely_benign | 0.1853 | benign | -1.261 | Destabilizing | 0.214 | N | 0.486 | neutral | None | None | None | None | I |
| S/I | 0.143 | likely_benign | 0.1513 | benign | -0.061 | Destabilizing | 0.295 | N | 0.588 | neutral | N | 0.506304512 | None | None | I |
| S/K | 0.2866 | likely_benign | 0.2942 | benign | -0.586 | Destabilizing | None | N | 0.167 | neutral | None | None | None | None | I |
| S/L | 0.1095 | likely_benign | 0.1055 | benign | -0.061 | Destabilizing | 0.072 | N | 0.394 | neutral | None | None | None | None | I |
| S/M | 0.1659 | likely_benign | 0.1658 | benign | 0.002 | Stabilizing | 0.628 | D | 0.476 | neutral | None | None | None | None | I |
| S/N | 0.0619 | likely_benign | 0.0617 | benign | -0.561 | Destabilizing | None | N | 0.153 | neutral | N | 0.461358869 | None | None | I |
| S/P | 0.2279 | likely_benign | 0.2265 | benign | -0.203 | Destabilizing | 0.136 | N | 0.444 | neutral | None | None | None | None | I |
| S/Q | 0.2237 | likely_benign | 0.2288 | benign | -0.634 | Destabilizing | 0.072 | N | 0.251 | neutral | None | None | None | None | I |
| S/R | 0.2752 | likely_benign | 0.2908 | benign | -0.517 | Destabilizing | 0.029 | N | 0.358 | neutral | N | 0.452008667 | None | None | I |
| S/T | 0.0697 | likely_benign | 0.0697 | benign | -0.561 | Destabilizing | 0.012 | N | 0.291 | neutral | N | 0.423704558 | None | None | I |
| S/V | 0.1524 | likely_benign | 0.1542 | benign | -0.203 | Destabilizing | 0.136 | N | 0.452 | neutral | None | None | None | None | I |
| S/W | 0.3757 | ambiguous | 0.3888 | ambiguous | -0.862 | Destabilizing | 0.864 | D | 0.497 | neutral | None | None | None | None | I |
| S/Y | 0.1736 | likely_benign | 0.1799 | benign | -0.565 | Destabilizing | 0.628 | D | 0.505 | 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.