Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2699 | 8320;8321;8322 | chr2:178771232;178771231;178771230 | chr2:179635959;179635958;179635957 |
| N2AB | 2699 | 8320;8321;8322 | chr2:178771232;178771231;178771230 | chr2:179635959;179635958;179635957 |
| N2A | 2699 | 8320;8321;8322 | chr2:178771232;178771231;178771230 | chr2:179635959;179635958;179635957 |
| N2B | 2653 | 8182;8183;8184 | chr2:178771232;178771231;178771230 | chr2:179635959;179635958;179635957 |
| Novex-1 | 2653 | 8182;8183;8184 | chr2:178771232;178771231;178771230 | chr2:179635959;179635958;179635957 |
| Novex-2 | 2653 | 8182;8183;8184 | chr2:178771232;178771231;178771230 | chr2:179635959;179635958;179635957 |
| Novex-3 | 2699 | 8320;8321;8322 | chr2:178771232;178771231;178771230 | chr2:179635959;179635958;179635957 |
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/A | rs373857878  |
-0.336 | 0.4 | D | 0.292 | 0.341 | None | gnomAD-2.1.1 | 7.96E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.76E-05 | 0 |
| S/A | rs373857878 |
-0.336 | 0.4 | D | 0.292 | 0.341 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| S/A | rs373857878 |
-0.336 | 0.4 | D | 0.292 | 0.341 | None | gnomAD-4.0.0 | 2.85014E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.6441E-05 | 0 | 4.80138E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0753 | likely_benign | 0.0819 | benign | -0.611 | Destabilizing | 0.4 | N | 0.292 | neutral | D | 0.636622633 | None | None | N |
| S/C | 0.1492 | likely_benign | 0.1542 | benign | -0.462 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | D | 0.656213851 | None | None | N |
| S/D | 0.521 | ambiguous | 0.5175 | ambiguous | -0.452 | Destabilizing | 0.993 | D | 0.589 | neutral | None | None | None | None | N |
| S/E | 0.5516 | ambiguous | 0.5328 | ambiguous | -0.499 | Destabilizing | 0.993 | D | 0.589 | neutral | None | None | None | None | N |
| S/F | 0.2174 | likely_benign | 0.2363 | benign | -0.94 | Destabilizing | 0.999 | D | 0.779 | deleterious | D | 0.58578228 | None | None | N |
| S/G | 0.1355 | likely_benign | 0.1363 | benign | -0.807 | Destabilizing | 0.985 | D | 0.579 | neutral | None | None | None | None | N |
| S/H | 0.4108 | ambiguous | 0.412 | ambiguous | -1.337 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| S/I | 0.1723 | likely_benign | 0.1891 | benign | -0.207 | Destabilizing | 0.996 | D | 0.77 | deleterious | None | None | None | None | N |
| S/K | 0.5995 | likely_pathogenic | 0.5858 | pathogenic | -0.765 | Destabilizing | 0.993 | D | 0.588 | neutral | None | None | None | None | N |
| S/L | 0.1219 | likely_benign | 0.1289 | benign | -0.207 | Destabilizing | 0.985 | D | 0.689 | prob.neutral | None | None | None | None | N |
| S/M | 0.2028 | likely_benign | 0.2168 | benign | 0.177 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| S/N | 0.1798 | likely_benign | 0.1847 | benign | -0.622 | Destabilizing | 0.993 | D | 0.593 | neutral | None | None | None | None | N |
| S/P | 0.8526 | likely_pathogenic | 0.8248 | pathogenic | -0.31 | Destabilizing | 0.997 | D | 0.727 | prob.delet. | D | 0.678719969 | None | None | N |
| S/Q | 0.5201 | ambiguous | 0.5207 | ambiguous | -0.898 | Destabilizing | 0.999 | D | 0.646 | neutral | None | None | None | None | N |
| S/R | 0.5181 | ambiguous | 0.503 | ambiguous | -0.532 | Destabilizing | 0.998 | D | 0.738 | prob.delet. | None | None | None | None | N |
| S/T | 0.0631 | likely_benign | 0.0659 | benign | -0.663 | Destabilizing | 0.219 | N | 0.261 | neutral | N | 0.50945732 | None | None | N |
| S/V | 0.1579 | likely_benign | 0.1685 | benign | -0.31 | Destabilizing | 0.985 | D | 0.715 | prob.delet. | None | None | None | None | N |
| S/W | 0.4752 | ambiguous | 0.4884 | ambiguous | -0.9 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| S/Y | 0.2462 | likely_benign | 0.2509 | benign | -0.648 | Destabilizing | 0.999 | D | 0.779 | deleterious | D | 0.716430469 | 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.