Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15546 | 46861;46862;46863 | chr2:178619681;178619680;178619679 | chr2:179484408;179484407;179484406 |
| N2AB | 13905 | 41938;41939;41940 | chr2:178619681;178619680;178619679 | chr2:179484408;179484407;179484406 |
| N2A | 12978 | 39157;39158;39159 | chr2:178619681;178619680;178619679 | chr2:179484408;179484407;179484406 |
| N2B | 6481 | 19666;19667;19668 | chr2:178619681;178619680;178619679 | chr2:179484408;179484407;179484406 |
| Novex-1 | 6606 | 20041;20042;20043 | chr2:178619681;178619680;178619679 | chr2:179484408;179484407;179484406 |
| Novex-2 | 6673 | 20242;20243;20244 | chr2:178619681;178619680;178619679 | chr2:179484408;179484407;179484406 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | None | None | 0.992 | N | 0.333 | 0.319 | 0.433491693731 | gnomAD-4.0.0 | 1.59456E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86472E-06 | 0 | 0 |
| Q/H | None | None | 0.999 | N | 0.632 | 0.292 | 0.486567385682 | gnomAD-4.0.0 | 1.59453E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4341E-05 | 0 |
| Q/P | rs2057979047  |
None | 0.999 | N | 0.757 | 0.59 | 0.476364732183 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/P | rs2057979047 |
None | 0.999 | N | 0.757 | 0.59 | 0.476364732183 | gnomAD-4.0.0 | 6.58354E-06 | None | None | None | None | N | None | 0 | 6.57203E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.3757 | ambiguous | 0.301 | benign | -0.639 | Destabilizing | 0.997 | D | 0.51 | neutral | None | None | None | None | N |
| Q/C | 0.8883 | likely_pathogenic | 0.8636 | pathogenic | -0.04 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| Q/D | 0.8666 | likely_pathogenic | 0.8557 | pathogenic | -0.542 | Destabilizing | 0.997 | D | 0.471 | neutral | None | None | None | None | N |
| Q/E | 0.1589 | likely_benign | 0.1422 | benign | -0.451 | Destabilizing | 0.992 | D | 0.333 | neutral | N | 0.473927119 | None | None | N |
| Q/F | 0.9389 | likely_pathogenic | 0.9216 | pathogenic | -0.379 | Destabilizing | 0.999 | D | 0.757 | deleterious | None | None | None | None | N |
| Q/G | 0.5826 | likely_pathogenic | 0.5187 | ambiguous | -0.991 | Destabilizing | 0.997 | D | 0.607 | neutral | None | None | None | None | N |
| Q/H | 0.6816 | likely_pathogenic | 0.6612 | pathogenic | -0.884 | Destabilizing | 0.999 | D | 0.632 | neutral | N | 0.512923267 | None | None | N |
| Q/I | 0.7184 | likely_pathogenic | 0.648 | pathogenic | 0.252 | Stabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| Q/K | 0.2619 | likely_benign | 0.2025 | benign | -0.347 | Destabilizing | 0.997 | D | 0.421 | neutral | N | 0.492368927 | None | None | N |
| Q/L | 0.4345 | ambiguous | 0.3881 | ambiguous | 0.252 | Stabilizing | 0.997 | D | 0.607 | neutral | N | 0.5112759 | None | None | N |
| Q/M | 0.5645 | likely_pathogenic | 0.5117 | ambiguous | 0.697 | Stabilizing | 0.999 | D | 0.634 | neutral | None | None | None | None | N |
| Q/N | 0.6757 | likely_pathogenic | 0.6597 | pathogenic | -0.915 | Destabilizing | 0.999 | D | 0.605 | neutral | None | None | None | None | N |
| Q/P | 0.886 | likely_pathogenic | 0.866 | pathogenic | -0.013 | Destabilizing | 0.999 | D | 0.757 | deleterious | N | 0.512923267 | None | None | N |
| Q/R | 0.2928 | likely_benign | 0.24 | benign | -0.305 | Destabilizing | 0.997 | D | 0.453 | neutral | N | 0.499914249 | None | None | N |
| Q/S | 0.5478 | ambiguous | 0.4726 | ambiguous | -0.997 | Destabilizing | 0.997 | D | 0.425 | neutral | None | None | None | None | N |
| Q/T | 0.4825 | ambiguous | 0.4106 | ambiguous | -0.71 | Destabilizing | 0.999 | D | 0.673 | neutral | None | None | None | None | N |
| Q/V | 0.5527 | ambiguous | 0.4824 | ambiguous | -0.013 | Destabilizing | 0.999 | D | 0.688 | prob.neutral | None | None | None | None | N |
| Q/W | 0.9409 | likely_pathogenic | 0.9277 | pathogenic | -0.26 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| Q/Y | 0.8944 | likely_pathogenic | 0.8762 | pathogenic | -0.032 | Destabilizing | 0.999 | D | 0.76 | 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.