Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27924 | 83995;83996;83997 | chr2:178562362;178562361;178562360 | chr2:179427089;179427088;179427087 |
| N2AB | 26283 | 79072;79073;79074 | chr2:178562362;178562361;178562360 | chr2:179427089;179427088;179427087 |
| N2A | 25356 | 76291;76292;76293 | chr2:178562362;178562361;178562360 | chr2:179427089;179427088;179427087 |
| N2B | 18859 | 56800;56801;56802 | chr2:178562362;178562361;178562360 | chr2:179427089;179427088;179427087 |
| Novex-1 | 18984 | 57175;57176;57177 | chr2:178562362;178562361;178562360 | chr2:179427089;179427088;179427087 |
| Novex-2 | 19051 | 57376;57377;57378 | chr2:178562362;178562361;178562360 | chr2:179427089;179427088;179427087 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs753769882  |
-0.376 | 0.873 | N | 0.416 | 0.273 | 0.319402600006 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| S/F | None | None | 0.001 | N | 0.315 | 0.171 | 0.344251166708 | gnomAD-4.0.0 | 1.37121E-06 | None | None | None | None | N | None | 3.00354E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00361E-07 | 0 | 0 |
| S/P | None | None | 0.391 | N | 0.449 | 0.164 | 0.21279746466 | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0712 | likely_benign | 0.0721 | benign | -0.453 | Destabilizing | 0.028 | N | 0.197 | neutral | N | 0.503205492 | None | None | N |
| S/C | 0.0999 | likely_benign | 0.1071 | benign | -0.286 | Destabilizing | 0.873 | D | 0.416 | neutral | N | 0.474005812 | None | None | N |
| S/D | 0.303 | likely_benign | 0.3455 | ambiguous | 0.042 | Stabilizing | 0.001 | N | 0.107 | neutral | None | None | None | None | N |
| S/E | 0.3725 | ambiguous | 0.4088 | ambiguous | -0.047 | Destabilizing | 0.002 | N | 0.099 | neutral | None | None | None | None | N |
| S/F | 0.1615 | likely_benign | 0.1711 | benign | -0.994 | Destabilizing | 0.001 | N | 0.315 | neutral | N | 0.473245343 | None | None | N |
| S/G | 0.0762 | likely_benign | 0.0796 | benign | -0.58 | Destabilizing | 0.001 | N | 0.106 | neutral | None | None | None | None | N |
| S/H | 0.2399 | likely_benign | 0.2566 | benign | -1.058 | Destabilizing | 0.596 | D | 0.416 | neutral | None | None | None | None | N |
| S/I | 0.1214 | likely_benign | 0.1291 | benign | -0.244 | Destabilizing | 0.006 | N | 0.321 | neutral | None | None | None | None | N |
| S/K | 0.4049 | ambiguous | 0.4529 | ambiguous | -0.563 | Destabilizing | 0.001 | N | 0.115 | neutral | None | None | None | None | N |
| S/L | 0.0776 | likely_benign | 0.0763 | benign | -0.244 | Destabilizing | 0.08 | N | 0.343 | neutral | None | None | None | None | N |
| S/M | 0.1495 | likely_benign | 0.1515 | benign | 0.029 | Stabilizing | 0.749 | D | 0.415 | neutral | None | None | None | None | N |
| S/N | 0.0989 | likely_benign | 0.1082 | benign | -0.266 | Destabilizing | 0.001 | N | 0.125 | neutral | None | None | None | None | N |
| S/P | 0.1219 | likely_benign | 0.1247 | benign | -0.285 | Destabilizing | 0.391 | N | 0.449 | neutral | N | 0.505552364 | None | None | N |
| S/Q | 0.349 | ambiguous | 0.3738 | ambiguous | -0.524 | Destabilizing | 0.016 | N | 0.175 | neutral | None | None | None | None | N |
| S/R | 0.3636 | ambiguous | 0.4087 | ambiguous | -0.324 | Destabilizing | 0.174 | N | 0.413 | neutral | None | None | None | None | N |
| S/T | 0.0601 | likely_benign | 0.0606 | benign | -0.371 | Destabilizing | 0.002 | N | 0.114 | neutral | N | 0.397632678 | None | None | N |
| S/V | 0.1313 | likely_benign | 0.1335 | benign | -0.285 | Destabilizing | 0.08 | N | 0.355 | neutral | None | None | None | None | N |
| S/W | 0.2802 | likely_benign | 0.3042 | benign | -0.987 | Destabilizing | 0.972 | D | 0.49 | neutral | None | None | None | None | N |
| S/Y | 0.1569 | likely_benign | 0.1756 | benign | -0.718 | Destabilizing | 0.137 | N | 0.58 | neutral | N | 0.4873239 | 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.