Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29110 | 87553;87554;87555 | chr2:178558026;178558025;178558024 | chr2:179422753;179422752;179422751 |
| N2AB | 27469 | 82630;82631;82632 | chr2:178558026;178558025;178558024 | chr2:179422753;179422752;179422751 |
| N2A | 26542 | 79849;79850;79851 | chr2:178558026;178558025;178558024 | chr2:179422753;179422752;179422751 |
| N2B | 20045 | 60358;60359;60360 | chr2:178558026;178558025;178558024 | chr2:179422753;179422752;179422751 |
| Novex-1 | 20170 | 60733;60734;60735 | chr2:178558026;178558025;178558024 | chr2:179422753;179422752;179422751 |
| Novex-2 | 20237 | 60934;60935;60936 | chr2:178558026;178558025;178558024 | chr2:179422753;179422752;179422751 |
| 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/T | rs1462899266  |
-0.45 | None | N | 0.338 | 0.023 | 0.0716867268079 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| A/T | rs1462899266 |
-0.45 | None | N | 0.338 | 0.023 | 0.0716867268079 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs1462899266 |
-0.45 | None | N | 0.338 | 0.023 | 0.0716867268079 | gnomAD-4.0.0 | 1.79698E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.37313E-05 | 0 | 1.60092E-05 |
| A/V | rs763682832 |
-0.161 | 0.062 | N | 0.343 | 0.038 | 0.258283824007 | gnomAD-2.1.1 | 3.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.94098E-04 | None | 0 | 0 | 0 |
| A/V | rs763682832 |
-0.161 | 0.062 | N | 0.343 | 0.038 | 0.258283824007 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 4.77555E-04 |
| A/V | rs763682832 |
-0.161 | 0.062 | N | 0.343 | 0.038 | 0.258283824007 | gnomAD-4.0.0 | 2.54039E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47555E-07 | 4.28176E-04 | 1.60036E-05 |
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 | 0.3226 | likely_benign | 0.3115 | benign | -0.744 | Destabilizing | 0.824 | D | 0.344 | neutral | None | None | None | None | N |
| A/D | 0.1817 | likely_benign | 0.1641 | benign | -0.426 | Destabilizing | 0.117 | N | 0.383 | neutral | N | 0.403739426 | None | None | N |
| A/E | 0.1847 | likely_benign | 0.169 | benign | -0.583 | Destabilizing | 0.149 | N | 0.359 | neutral | None | None | None | None | N |
| A/F | 0.2625 | likely_benign | 0.2478 | benign | -0.857 | Destabilizing | 0.555 | D | 0.392 | neutral | None | None | None | None | N |
| A/G | 0.1001 | likely_benign | 0.0971 | benign | -0.225 | Destabilizing | None | N | 0.195 | neutral | N | 0.412225623 | None | None | N |
| A/H | 0.325 | likely_benign | 0.2985 | benign | -0.238 | Destabilizing | 0.935 | D | 0.369 | neutral | None | None | None | None | N |
| A/I | 0.161 | likely_benign | 0.1613 | benign | -0.314 | Destabilizing | 0.235 | N | 0.351 | neutral | None | None | None | None | N |
| A/K | 0.292 | likely_benign | 0.2727 | benign | -0.559 | Destabilizing | 0.149 | N | 0.347 | neutral | None | None | None | None | N |
| A/L | 0.1195 | likely_benign | 0.1151 | benign | -0.314 | Destabilizing | 0.081 | N | 0.309 | neutral | None | None | None | None | N |
| A/M | 0.1457 | likely_benign | 0.1414 | benign | -0.387 | Destabilizing | 0.824 | D | 0.31 | neutral | None | None | None | None | N |
| A/N | 0.1421 | likely_benign | 0.1355 | benign | -0.239 | Destabilizing | 0.149 | N | 0.405 | neutral | None | None | None | None | N |
| A/P | 0.1955 | likely_benign | 0.1828 | benign | -0.244 | Destabilizing | 0.484 | N | 0.34 | neutral | N | 0.487878175 | None | None | N |
| A/Q | 0.2462 | likely_benign | 0.2326 | benign | -0.515 | Destabilizing | 0.555 | D | 0.332 | neutral | None | None | None | None | N |
| A/R | 0.2939 | likely_benign | 0.2739 | benign | -0.098 | Destabilizing | 0.38 | N | 0.354 | neutral | None | None | None | None | N |
| A/S | 0.0774 | likely_benign | 0.0749 | benign | -0.437 | Destabilizing | 0.001 | N | 0.231 | neutral | N | 0.379995775 | None | None | N |
| A/T | 0.0701 | likely_benign | 0.0693 | benign | -0.515 | Destabilizing | None | N | 0.338 | neutral | N | 0.457208551 | None | None | N |
| A/V | 0.0986 | likely_benign | 0.0968 | benign | -0.244 | Destabilizing | 0.062 | N | 0.343 | neutral | N | 0.469465773 | None | None | N |
| A/W | 0.5615 | ambiguous | 0.5298 | ambiguous | -0.988 | Destabilizing | 0.935 | D | 0.527 | neutral | None | None | None | None | N |
| A/Y | 0.3512 | ambiguous | 0.3264 | benign | -0.644 | Destabilizing | 0.555 | D | 0.393 | 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.