Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32125 | 96598;96599;96600 | chr2:178543600;178543599;178543598 | chr2:179408327;179408326;179408325 |
| N2AB | 30484 | 91675;91676;91677 | chr2:178543600;178543599;178543598 | chr2:179408327;179408326;179408325 |
| N2A | 29557 | 88894;88895;88896 | chr2:178543600;178543599;178543598 | chr2:179408327;179408326;179408325 |
| N2B | 23060 | 69403;69404;69405 | chr2:178543600;178543599;178543598 | chr2:179408327;179408326;179408325 |
| Novex-1 | 23185 | 69778;69779;69780 | chr2:178543600;178543599;178543598 | chr2:179408327;179408326;179408325 |
| Novex-2 | 23252 | 69979;69980;69981 | chr2:178543600;178543599;178543598 | chr2:179408327;179408326;179408325 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/P | rs1295778602  |
-0.783 | 1.0 | N | 0.825 | 0.46 | 0.376570364461 | gnomAD-2.1.1 | 4.13E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| T/P | rs1295778602 |
-0.783 | 1.0 | N | 0.825 | 0.46 | 0.376570364461 | gnomAD-4.0.0 | 1.61175E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86033E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0884 | likely_benign | 0.0893 | benign | -1.015 | Destabilizing | 0.996 | D | 0.536 | neutral | N | 0.486254527 | None | None | N |
| T/C | 0.3012 | likely_benign | 0.3146 | benign | -0.617 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| T/D | 0.6499 | likely_pathogenic | 0.5849 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| T/E | 0.4979 | ambiguous | 0.4684 | ambiguous | -1.075 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| T/F | 0.2379 | likely_benign | 0.2313 | benign | -0.572 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| T/G | 0.2294 | likely_benign | 0.2456 | benign | -1.432 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| T/H | 0.327 | likely_benign | 0.3019 | benign | -1.518 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| T/I | 0.1804 | likely_benign | 0.1791 | benign | 0.078 | Stabilizing | 1.0 | D | 0.827 | deleterious | N | 0.489134326 | None | None | N |
| T/K | 0.459 | ambiguous | 0.4144 | ambiguous | -0.524 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| T/L | 0.102 | likely_benign | 0.1016 | benign | 0.078 | Stabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| T/M | 0.0913 | likely_benign | 0.0935 | benign | 0.006 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| T/N | 0.1641 | likely_benign | 0.1541 | benign | -1.138 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.502877418 | None | None | N |
| T/P | 0.7681 | likely_pathogenic | 0.7469 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.500655215 | None | None | N |
| T/Q | 0.3156 | likely_benign | 0.3023 | benign | -0.902 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| T/R | 0.372 | ambiguous | 0.3271 | benign | -0.721 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| T/S | 0.0978 | likely_benign | 0.0962 | benign | -1.356 | Destabilizing | 0.996 | D | 0.517 | neutral | N | 0.414156781 | None | None | N |
| T/V | 0.1394 | likely_benign | 0.1412 | benign | -0.255 | Destabilizing | 1.0 | D | 0.601 | neutral | None | None | None | None | N |
| T/W | 0.6453 | likely_pathogenic | 0.627 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| T/Y | 0.3073 | likely_benign | 0.303 | benign | -0.374 | Destabilizing | 1.0 | D | 0.887 | 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.