Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7121 | 21586;21587;21588 | chr2:178723898;178723897;178723896 | chr2:179588625;179588624;179588623 |
| N2AB | 6804 | 20635;20636;20637 | chr2:178723898;178723897;178723896 | chr2:179588625;179588624;179588623 |
| N2A | 5877 | 17854;17855;17856 | chr2:178723898;178723897;178723896 | chr2:179588625;179588624;179588623 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/D | rs1276789641  |
0.081 | 0.055 | N | 0.294 | 0.219 | 0.48461828368 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/D | rs1276789641 |
0.081 | 0.055 | N | 0.294 | 0.219 | 0.48461828368 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| V/D | rs1276789641 |
0.081 | 0.055 | N | 0.294 | 0.219 | 0.48461828368 | gnomAD-4.0.0 | 3.84604E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.02296E-05 | 0 |
| V/I | rs893277923 |
None | 0.055 | N | 0.32 | 0.163 | 0.390842690916 | gnomAD-4.0.0 | 2.73792E-06 | None | None | None | None | I | None | 2.99079E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79956E-06 | 0 | 1.65717E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0946 | likely_benign | 0.0818 | benign | -0.38 | Destabilizing | None | N | 0.091 | neutral | N | 0.451190309 | None | None | I |
| V/C | 0.7115 | likely_pathogenic | 0.6465 | pathogenic | -0.871 | Destabilizing | 0.356 | N | 0.259 | neutral | None | None | None | None | I |
| V/D | 0.1805 | likely_benign | 0.136 | benign | -0.325 | Destabilizing | 0.055 | N | 0.294 | neutral | N | 0.470200144 | None | None | I |
| V/E | 0.1578 | likely_benign | 0.1331 | benign | -0.443 | Destabilizing | 0.016 | N | 0.29 | neutral | None | None | None | None | I |
| V/F | 0.1377 | likely_benign | 0.1146 | benign | -0.743 | Destabilizing | 0.295 | N | 0.26 | neutral | N | 0.504468601 | None | None | I |
| V/G | 0.1509 | likely_benign | 0.1249 | benign | -0.432 | Destabilizing | 0.012 | N | 0.296 | neutral | N | 0.50871846 | None | None | I |
| V/H | 0.4047 | ambiguous | 0.3363 | benign | -0.033 | Destabilizing | 0.356 | N | 0.213 | neutral | None | None | None | None | I |
| V/I | 0.0745 | likely_benign | 0.0743 | benign | -0.386 | Destabilizing | 0.055 | N | 0.32 | neutral | N | 0.5081611 | None | None | I |
| V/K | 0.2143 | likely_benign | 0.1786 | benign | -0.408 | Destabilizing | None | N | 0.116 | neutral | None | None | None | None | I |
| V/L | 0.1542 | likely_benign | 0.13 | benign | -0.386 | Destabilizing | 0.012 | N | 0.277 | neutral | N | 0.519396814 | None | None | I |
| V/M | 0.1071 | likely_benign | 0.101 | benign | -0.583 | Destabilizing | 0.356 | N | 0.245 | neutral | None | None | None | None | I |
| V/N | 0.1847 | likely_benign | 0.1449 | benign | -0.253 | Destabilizing | 0.072 | N | 0.28 | neutral | None | None | None | None | I |
| V/P | 0.3799 | ambiguous | 0.2814 | benign | -0.357 | Destabilizing | 0.072 | N | 0.273 | neutral | None | None | None | None | I |
| V/Q | 0.2198 | likely_benign | 0.182 | benign | -0.459 | Destabilizing | 0.003 | N | 0.205 | neutral | None | None | None | None | I |
| V/R | 0.1794 | likely_benign | 0.1472 | benign | 0.041 | Stabilizing | 0.038 | N | 0.284 | neutral | None | None | None | None | I |
| V/S | 0.1379 | likely_benign | 0.1136 | benign | -0.568 | Destabilizing | 0.003 | N | 0.146 | neutral | None | None | None | None | I |
| V/T | 0.1211 | likely_benign | 0.1055 | benign | -0.594 | Destabilizing | 0.001 | N | 0.144 | neutral | None | None | None | None | I |
| V/W | 0.6399 | likely_pathogenic | 0.5578 | ambiguous | -0.789 | Destabilizing | 0.864 | D | 0.225 | neutral | None | None | None | None | I |
| V/Y | 0.4226 | ambiguous | 0.3424 | ambiguous | -0.526 | Destabilizing | 0.356 | N | 0.259 | neutral | None | None | None | None | I |
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.