Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2734 | 8425;8426;8427 | chr2:178770592;178770591;178770590 | chr2:179635319;179635318;179635317 |
| N2AB | 2734 | 8425;8426;8427 | chr2:178770592;178770591;178770590 | chr2:179635319;179635318;179635317 |
| N2A | 2734 | 8425;8426;8427 | chr2:178770592;178770591;178770590 | chr2:179635319;179635318;179635317 |
| N2B | 2688 | 8287;8288;8289 | chr2:178770592;178770591;178770590 | chr2:179635319;179635318;179635317 |
| Novex-1 | 2688 | 8287;8288;8289 | chr2:178770592;178770591;178770590 | chr2:179635319;179635318;179635317 |
| Novex-2 | 2688 | 8287;8288;8289 | chr2:178770592;178770591;178770590 | chr2:179635319;179635318;179635317 |
| Novex-3 | 2734 | 8425;8426;8427 | chr2:178770592;178770591;178770590 | chr2:179635319;179635318;179635317 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs775219028  |
0.441 | None | N | 0.083 | 0.198 | 0.0401082797425 | gnomAD-2.1.1 | 7.96E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.76E-05 | 0 |
| N/D | rs775219028 |
0.441 | None | N | 0.083 | 0.198 | 0.0401082797425 | gnomAD-4.0.0 | 1.36815E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7986E-06 | 0 | 0 |
| N/H | rs775219028 |
-0.043 | 0.171 | D | 0.409 | 0.206 | 0.112648838833 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| N/H | rs775219028 |
-0.043 | 0.171 | D | 0.409 | 0.206 | 0.112648838833 | gnomAD-4.0.0 | 6.84075E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 0 |
| N/K | None | None | 0.012 | N | 0.349 | 0.128 | 0.0551355673512 | gnomAD-4.0.0 | 1.59052E-06 | None | None | None | None | N | None | 5.65163E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1363 | likely_benign | 0.1499 | benign | -0.037 | Destabilizing | 0.031 | N | 0.277 | neutral | None | None | None | None | N |
| N/C | 0.3756 | ambiguous | 0.4304 | ambiguous | 0.173 | Stabilizing | 0.864 | D | 0.319 | neutral | None | None | None | None | N |
| N/D | 0.056 | likely_benign | 0.0555 | benign | 0.236 | Stabilizing | None | N | 0.083 | neutral | N | 0.393865624 | None | None | N |
| N/E | 0.1686 | likely_benign | 0.1866 | benign | 0.189 | Stabilizing | None | N | 0.129 | neutral | None | None | None | None | N |
| N/F | 0.4692 | ambiguous | 0.5008 | ambiguous | -0.615 | Destabilizing | 0.038 | N | 0.426 | neutral | None | None | None | None | N |
| N/G | 0.2004 | likely_benign | 0.2084 | benign | -0.148 | Destabilizing | 0.031 | N | 0.312 | neutral | None | None | None | None | N |
| N/H | 0.1168 | likely_benign | 0.1176 | benign | -0.149 | Destabilizing | 0.171 | N | 0.409 | neutral | D | 0.539963777 | None | None | N |
| N/I | 0.228 | likely_benign | 0.2723 | benign | 0.157 | Stabilizing | 0.171 | N | 0.423 | neutral | N | 0.510829366 | None | None | N |
| N/K | 0.2016 | likely_benign | 0.2166 | benign | 0.153 | Stabilizing | 0.012 | N | 0.349 | neutral | N | 0.49497253 | None | None | N |
| N/L | 0.2121 | likely_benign | 0.244 | benign | 0.157 | Stabilizing | 0.038 | N | 0.397 | neutral | None | None | None | None | N |
| N/M | 0.3065 | likely_benign | 0.3306 | benign | 0.079 | Stabilizing | 0.628 | D | 0.33 | neutral | None | None | None | None | N |
| N/P | 0.6357 | likely_pathogenic | 0.7339 | pathogenic | 0.117 | Stabilizing | 0.136 | N | 0.431 | neutral | None | None | None | None | N |
| N/Q | 0.2373 | likely_benign | 0.2449 | benign | -0.144 | Destabilizing | 0.038 | N | 0.403 | neutral | None | None | None | None | N |
| N/R | 0.2557 | likely_benign | 0.2739 | benign | 0.197 | Stabilizing | 0.072 | N | 0.414 | neutral | None | None | None | None | N |
| N/S | 0.0782 | likely_benign | 0.0811 | benign | 0.023 | Stabilizing | 0.012 | N | 0.309 | neutral | N | 0.507643318 | None | None | N |
| N/T | 0.1119 | likely_benign | 0.1233 | benign | 0.095 | Stabilizing | 0.024 | N | 0.339 | neutral | N | 0.509286937 | None | None | N |
| N/V | 0.1879 | likely_benign | 0.2266 | benign | 0.117 | Stabilizing | 0.072 | N | 0.421 | neutral | None | None | None | None | N |
| N/W | 0.7486 | likely_pathogenic | 0.765 | pathogenic | -0.76 | Destabilizing | 0.676 | D | 0.316 | neutral | None | None | None | None | N |
| N/Y | 0.1626 | likely_benign | 0.1778 | benign | -0.419 | Destabilizing | None | N | 0.209 | neutral | D | 0.540958484 | 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.