Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33284 | 100075;100076;100077 | chr2:178537357;178537356;178537355 | chr2:179402084;179402083;179402082 |
| N2AB | 31643 | 95152;95153;95154 | chr2:178537357;178537356;178537355 | chr2:179402084;179402083;179402082 |
| N2A | 30716 | 92371;92372;92373 | chr2:178537357;178537356;178537355 | chr2:179402084;179402083;179402082 |
| N2B | 24219 | 72880;72881;72882 | chr2:178537357;178537356;178537355 | chr2:179402084;179402083;179402082 |
| Novex-1 | 24344 | 73255;73256;73257 | chr2:178537357;178537356;178537355 | chr2:179402084;179402083;179402082 |
| Novex-2 | 24411 | 73456;73457;73458 | chr2:178537357;178537356;178537355 | chr2:179402084;179402083;179402082 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | 0.029 | N | 0.433 | 0.107 | 0.236278675362 | gnomAD-4.0.0 | 7.10619E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.2031E-07 | 0 | 0 |
| D/H | None | None | 0.749 | N | 0.601 | 0.169 | 0.271763555656 | gnomAD-4.0.0 | 7.10201E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.20458E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1807 | likely_benign | 0.1907 | benign | -0.649 | Destabilizing | 0.207 | N | 0.522 | neutral | N | 0.463639531 | None | None | N |
| D/C | 0.6267 | likely_pathogenic | 0.674 | pathogenic | -0.396 | Destabilizing | 0.952 | D | 0.623 | neutral | None | None | None | None | N |
| D/E | 0.194 | likely_benign | 0.1903 | benign | -0.861 | Destabilizing | 0.029 | N | 0.433 | neutral | N | 0.423867635 | None | None | N |
| D/F | 0.5657 | likely_pathogenic | 0.602 | pathogenic | -0.363 | Destabilizing | 0.985 | D | 0.65 | neutral | None | None | None | None | N |
| D/G | 0.2378 | likely_benign | 0.2586 | benign | -1.017 | Destabilizing | 0.087 | N | 0.473 | neutral | N | 0.483188084 | None | None | N |
| D/H | 0.2211 | likely_benign | 0.2265 | benign | -0.777 | Destabilizing | 0.749 | D | 0.601 | neutral | N | 0.483361443 | None | None | N |
| D/I | 0.3603 | ambiguous | 0.3696 | ambiguous | 0.333 | Stabilizing | 0.955 | D | 0.627 | neutral | None | None | None | None | N |
| D/K | 0.4004 | ambiguous | 0.401 | ambiguous | -0.693 | Destabilizing | 0.383 | N | 0.485 | neutral | None | None | None | None | N |
| D/L | 0.3562 | ambiguous | 0.3641 | ambiguous | 0.333 | Stabilizing | 0.751 | D | 0.59 | neutral | None | None | None | None | N |
| D/M | 0.583 | likely_pathogenic | 0.602 | pathogenic | 0.804 | Stabilizing | 0.961 | D | 0.624 | neutral | None | None | None | None | N |
| D/N | 0.0896 | likely_benign | 0.0963 | benign | -1.035 | Destabilizing | None | N | 0.178 | neutral | N | 0.3776367 | None | None | N |
| D/P | 0.713 | likely_pathogenic | 0.7326 | pathogenic | 0.03 | Stabilizing | None | N | 0.271 | neutral | None | None | None | None | N |
| D/Q | 0.3291 | likely_benign | 0.3545 | ambiguous | -0.884 | Destabilizing | 0.53 | D | 0.5 | neutral | None | None | None | None | N |
| D/R | 0.4098 | ambiguous | 0.4315 | ambiguous | -0.597 | Destabilizing | 0.004 | N | 0.337 | neutral | None | None | None | None | N |
| D/S | 0.1439 | likely_benign | 0.15 | benign | -1.374 | Destabilizing | 0.148 | N | 0.434 | neutral | None | None | None | None | N |
| D/T | 0.2255 | likely_benign | 0.2308 | benign | -1.068 | Destabilizing | 0.134 | N | 0.501 | neutral | None | None | None | None | N |
| D/V | 0.2139 | likely_benign | 0.2236 | benign | 0.03 | Stabilizing | 0.447 | N | 0.626 | neutral | N | 0.464332965 | None | None | N |
| D/W | 0.8534 | likely_pathogenic | 0.8574 | pathogenic | -0.267 | Destabilizing | 0.996 | D | 0.649 | neutral | None | None | None | None | N |
| D/Y | 0.2094 | likely_benign | 0.2229 | benign | -0.143 | Destabilizing | 0.98 | D | 0.644 | neutral | N | 0.483708159 | 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.