Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18365 | 55318;55319;55320 | chr2:178602309;178602308;178602307 | chr2:179467036;179467035;179467034 |
| N2AB | 16724 | 50395;50396;50397 | chr2:178602309;178602308;178602307 | chr2:179467036;179467035;179467034 |
| N2A | 15797 | 47614;47615;47616 | chr2:178602309;178602308;178602307 | chr2:179467036;179467035;179467034 |
| N2B | 9300 | 28123;28124;28125 | chr2:178602309;178602308;178602307 | chr2:179467036;179467035;179467034 |
| Novex-1 | 9425 | 28498;28499;28500 | chr2:178602309;178602308;178602307 | chr2:179467036;179467035;179467034 |
| Novex-2 | 9492 | 28699;28700;28701 | chr2:178602309;178602308;178602307 | chr2:179467036;179467035;179467034 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs2053664873  |
None | 0.001 | N | 0.248 | 0.105 | 0.132336055621 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/R | rs779878917 |
-0.121 | 0.624 | N | 0.791 | 0.094 | 0.574230370252 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| G/R | rs779878917 |
-0.121 | 0.624 | N | 0.791 | 0.094 | 0.574230370252 | gnomAD-4.0.0 | 4.78037E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.58639E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0711 | likely_benign | 0.0905 | benign | -0.539 | Destabilizing | 0.001 | N | 0.248 | neutral | N | 0.484721306 | None | None | N |
| G/C | 0.1405 | likely_benign | 0.1838 | benign | -0.914 | Destabilizing | 0.944 | D | 0.797 | deleterious | None | None | None | None | N |
| G/D | 0.1392 | likely_benign | 0.1648 | benign | -0.819 | Destabilizing | 0.687 | D | 0.615 | neutral | None | None | None | None | N |
| G/E | 0.1179 | likely_benign | 0.1397 | benign | -0.957 | Destabilizing | 0.624 | D | 0.729 | deleterious | N | 0.418824388 | None | None | N |
| G/F | 0.3385 | likely_benign | 0.4554 | ambiguous | -1.116 | Destabilizing | 0.817 | D | 0.827 | deleterious | None | None | None | None | N |
| G/H | 0.2531 | likely_benign | 0.3339 | benign | -0.869 | Destabilizing | 0.981 | D | 0.758 | deleterious | None | None | None | None | N |
| G/I | 0.159 | likely_benign | 0.2021 | benign | -0.512 | Destabilizing | 0.687 | D | 0.835 | deleterious | None | None | None | None | N |
| G/K | 0.1818 | likely_benign | 0.2287 | benign | -1.1 | Destabilizing | 0.687 | D | 0.736 | deleterious | None | None | None | None | N |
| G/L | 0.1839 | likely_benign | 0.2578 | benign | -0.512 | Destabilizing | 0.524 | D | 0.77 | deleterious | None | None | None | None | N |
| G/M | 0.2338 | likely_benign | 0.3211 | benign | -0.485 | Destabilizing | 0.944 | D | 0.799 | deleterious | None | None | None | None | N |
| G/N | 0.1731 | likely_benign | 0.2146 | benign | -0.729 | Destabilizing | 0.687 | D | 0.543 | neutral | None | None | None | None | N |
| G/P | 0.3352 | likely_benign | 0.5088 | ambiguous | -0.484 | Destabilizing | 0.817 | D | 0.789 | deleterious | None | None | None | None | N |
| G/Q | 0.1752 | likely_benign | 0.2196 | benign | -1.004 | Destabilizing | 0.817 | D | 0.793 | deleterious | None | None | None | None | N |
| G/R | 0.1444 | likely_benign | 0.1917 | benign | -0.632 | Destabilizing | 0.624 | D | 0.791 | deleterious | N | 0.498805324 | None | None | N |
| G/S | 0.0771 | likely_benign | 0.087 | benign | -0.897 | Destabilizing | 0.004 | N | 0.195 | neutral | None | None | None | None | N |
| G/T | 0.0866 | likely_benign | 0.1086 | benign | -0.963 | Destabilizing | 0.239 | N | 0.739 | deleterious | None | None | None | None | N |
| G/V | 0.1038 | likely_benign | 0.1344 | benign | -0.484 | Destabilizing | 0.454 | N | 0.755 | deleterious | N | 0.514390852 | None | None | N |
| G/W | 0.2402 | likely_benign | 0.35 | ambiguous | -1.313 | Destabilizing | 0.975 | D | 0.727 | deleterious | N | 0.498500211 | None | None | N |
| G/Y | 0.2793 | likely_benign | 0.3664 | ambiguous | -0.96 | Destabilizing | 0.931 | D | 0.795 | deleterious | None | None | None | None | N |
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.