Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33161 | 99706;99707;99708 | chr2:178537726;178537725;178537724 | chr2:179402453;179402452;179402451 |
| N2AB | 31520 | 94783;94784;94785 | chr2:178537726;178537725;178537724 | chr2:179402453;179402452;179402451 |
| N2A | 30593 | 92002;92003;92004 | chr2:178537726;178537725;178537724 | chr2:179402453;179402452;179402451 |
| N2B | 24096 | 72511;72512;72513 | chr2:178537726;178537725;178537724 | chr2:179402453;179402452;179402451 |
| Novex-1 | 24221 | 72886;72887;72888 | chr2:178537726;178537725;178537724 | chr2:179402453;179402452;179402451 |
| Novex-2 | 24288 | 73087;73088;73089 | chr2:178537726;178537725;178537724 | chr2:179402453;179402452;179402451 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs1190762492  |
None | 0.057 | N | 0.251 | 0.121 | 0.516050471323 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/I | rs1190762492 |
None | 0.057 | N | 0.251 | 0.121 | 0.516050471323 | gnomAD-4.0.0 | 1.59134E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8583E-06 | 0 | 0 |
| M/T | None | None | 0.165 | N | 0.33 | 0.307 | 0.62009270483 | 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 |
| M/V | rs910034354 |
None | 0.056 | N | 0.183 | 0.129 | 0.455996456696 | gnomAD-4.0.0 | 1.59133E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.3039 | likely_benign | 0.342 | ambiguous | -1.513 | Destabilizing | 0.466 | N | 0.335 | neutral | None | None | None | None | N |
| M/C | 0.7119 | likely_pathogenic | 0.7395 | pathogenic | -1.173 | Destabilizing | 0.979 | D | 0.37 | neutral | None | None | None | None | N |
| M/D | 0.7567 | likely_pathogenic | 0.7687 | pathogenic | -0.694 | Destabilizing | 0.388 | N | 0.421 | neutral | None | None | None | None | N |
| M/E | 0.4629 | ambiguous | 0.4899 | ambiguous | -0.693 | Destabilizing | 0.114 | N | 0.384 | neutral | None | None | None | None | N |
| M/F | 0.2905 | likely_benign | 0.3098 | benign | -0.779 | Destabilizing | 0.09 | N | 0.263 | neutral | None | None | None | None | N |
| M/G | 0.5813 | likely_pathogenic | 0.6215 | pathogenic | -1.795 | Destabilizing | 0.679 | D | 0.431 | neutral | None | None | None | None | N |
| M/H | 0.4369 | ambiguous | 0.4563 | ambiguous | -0.951 | Destabilizing | 0.862 | D | 0.377 | neutral | None | None | None | None | N |
| M/I | 0.1965 | likely_benign | 0.2592 | benign | -0.805 | Destabilizing | 0.057 | N | 0.251 | neutral | N | 0.369345291 | None | None | N |
| M/K | 0.2287 | likely_benign | 0.2547 | benign | -0.397 | Destabilizing | 0.057 | N | 0.331 | neutral | N | 0.391333929 | None | None | N |
| M/L | 0.1049 | likely_benign | 0.1201 | benign | -0.805 | Destabilizing | None | N | 0.093 | neutral | N | 0.399454767 | None | None | N |
| M/N | 0.3404 | ambiguous | 0.3393 | benign | -0.228 | Destabilizing | 0.388 | N | 0.399 | neutral | None | None | None | None | N |
| M/P | 0.8588 | likely_pathogenic | 0.8831 | pathogenic | -1.014 | Destabilizing | 0.819 | D | 0.408 | neutral | None | None | None | None | N |
| M/Q | 0.2346 | likely_benign | 0.2339 | benign | -0.382 | Destabilizing | 0.012 | N | 0.089 | neutral | None | None | None | None | N |
| M/R | 0.2466 | likely_benign | 0.2898 | benign | 0.074 | Stabilizing | 0.241 | N | 0.325 | neutral | N | 0.386197468 | None | None | N |
| M/S | 0.3139 | likely_benign | 0.3249 | benign | -0.779 | Destabilizing | 0.466 | N | 0.331 | neutral | None | None | None | None | N |
| M/T | 0.1672 | likely_benign | 0.1917 | benign | -0.673 | Destabilizing | 0.165 | N | 0.33 | neutral | N | 0.398569332 | None | None | N |
| M/V | 0.0863 | likely_benign | 0.105 | benign | -1.014 | Destabilizing | 0.056 | N | 0.183 | neutral | N | 0.389643205 | None | None | N |
| M/W | 0.6304 | likely_pathogenic | 0.684 | pathogenic | -0.711 | Destabilizing | 0.996 | D | 0.372 | neutral | None | None | None | None | N |
| M/Y | 0.5449 | ambiguous | 0.5731 | pathogenic | -0.674 | Destabilizing | 0.893 | D | 0.398 | neutral | 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.