Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29884 | 89875;89876;89877 | chr2:178553250;178553249;178553248 | chr2:179417977;179417976;179417975 |
| N2AB | 28243 | 84952;84953;84954 | chr2:178553250;178553249;178553248 | chr2:179417977;179417976;179417975 |
| N2A | 27316 | 82171;82172;82173 | chr2:178553250;178553249;178553248 | chr2:179417977;179417976;179417975 |
| N2B | 20819 | 62680;62681;62682 | chr2:178553250;178553249;178553248 | chr2:179417977;179417976;179417975 |
| Novex-1 | 20944 | 63055;63056;63057 | chr2:178553250;178553249;178553248 | chr2:179417977;179417976;179417975 |
| Novex-2 | 21011 | 63256;63257;63258 | chr2:178553250;178553249;178553248 | chr2:179417977;179417976;179417975 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | None | None | 0.029 | N | 0.315 | 0.137 | 0.128392430309 | gnomAD-4.0.0 | 1.36918E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79889E-06 | 0 | 0 |
| A/G | None | None | 0.024 | N | 0.224 | 0.07 | 0.0884992946249 | gnomAD-4.0.0 | 6.84592E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99444E-07 | 0 | 0 |
| A/T | None | None | None | N | 0.148 | 0.049 | 0.0884992946249 | gnomAD-4.0.0 | 1.59346E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| A/V | rs1486750909  |
None | None | N | 0.117 | 0.079 | 0.143124449307 | gnomAD-4.0.0 | 6.84592E-07 | None | None | None | None | N | None | 2.98721E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3376 | likely_benign | 0.3257 | benign | -0.984 | Destabilizing | 0.676 | D | 0.286 | neutral | None | None | None | None | N |
| A/D | 0.1297 | likely_benign | 0.1346 | benign | -0.419 | Destabilizing | 0.029 | N | 0.315 | neutral | N | 0.341266815 | None | None | N |
| A/E | 0.1245 | likely_benign | 0.1251 | benign | -0.552 | Destabilizing | None | N | 0.211 | neutral | None | None | None | None | N |
| A/F | 0.2464 | likely_benign | 0.2226 | benign | -0.901 | Destabilizing | 0.214 | N | 0.351 | neutral | None | None | None | None | N |
| A/G | 0.0965 | likely_benign | 0.0959 | benign | -0.356 | Destabilizing | 0.024 | N | 0.224 | neutral | N | 0.369837496 | None | None | N |
| A/H | 0.2502 | likely_benign | 0.2507 | benign | -0.245 | Destabilizing | 0.356 | N | 0.339 | neutral | None | None | None | None | N |
| A/I | 0.1289 | likely_benign | 0.1213 | benign | -0.453 | Destabilizing | 0.013 | N | 0.256 | neutral | None | None | None | None | N |
| A/K | 0.1839 | likely_benign | 0.1845 | benign | -0.627 | Destabilizing | 0.038 | N | 0.271 | neutral | None | None | None | None | N |
| A/L | 0.1083 | likely_benign | 0.103 | benign | -0.453 | Destabilizing | 0.016 | N | 0.271 | neutral | None | None | None | None | N |
| A/M | 0.1484 | likely_benign | 0.1419 | benign | -0.683 | Destabilizing | 0.214 | N | 0.28 | neutral | None | None | None | None | N |
| A/N | 0.1182 | likely_benign | 0.1166 | benign | -0.417 | Destabilizing | 0.001 | N | 0.217 | neutral | None | None | None | None | N |
| A/P | 0.0695 | likely_benign | 0.0685 | benign | -0.387 | Destabilizing | None | N | 0.195 | neutral | N | 0.41657265 | None | None | N |
| A/Q | 0.1665 | likely_benign | 0.1695 | benign | -0.63 | Destabilizing | 0.12 | N | 0.318 | neutral | None | None | None | None | N |
| A/R | 0.2107 | likely_benign | 0.2028 | benign | -0.212 | Destabilizing | 0.214 | N | 0.317 | neutral | None | None | None | None | N |
| A/S | 0.0721 | likely_benign | 0.0735 | benign | -0.64 | Destabilizing | 0.012 | N | 0.269 | neutral | N | 0.386788461 | None | None | N |
| A/T | 0.0671 | likely_benign | 0.0654 | benign | -0.69 | Destabilizing | None | N | 0.148 | neutral | N | 0.400104475 | None | None | N |
| A/V | 0.0828 | likely_benign | 0.0804 | benign | -0.387 | Destabilizing | None | N | 0.117 | neutral | N | 0.476391745 | None | None | N |
| A/W | 0.5192 | ambiguous | 0.4881 | ambiguous | -1.0 | Destabilizing | 0.864 | D | 0.403 | neutral | None | None | None | None | N |
| A/Y | 0.2972 | likely_benign | 0.277 | benign | -0.699 | Destabilizing | 0.356 | N | 0.349 | 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.