Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26345 | 79258;79259;79260 | chr2:178567099;178567098;178567097 | chr2:179431826;179431825;179431824 |
| N2AB | 24704 | 74335;74336;74337 | chr2:178567099;178567098;178567097 | chr2:179431826;179431825;179431824 |
| N2A | 23777 | 71554;71555;71556 | chr2:178567099;178567098;178567097 | chr2:179431826;179431825;179431824 |
| N2B | 17280 | 52063;52064;52065 | chr2:178567099;178567098;178567097 | chr2:179431826;179431825;179431824 |
| Novex-1 | 17405 | 52438;52439;52440 | chr2:178567099;178567098;178567097 | chr2:179431826;179431825;179431824 |
| Novex-2 | 17472 | 52639;52640;52641 | chr2:178567099;178567098;178567097 | chr2:179431826;179431825;179431824 |
| 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 | rs1402438452  |
None | 0.928 | N | 0.546 | 0.307 | 0.376216005999 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/C | rs1402438452 |
None | 0.928 | N | 0.546 | 0.307 | 0.376216005999 | gnomAD-4.0.0 | 6.57704E-06 | None | None | None | None | N | None | 2.41418E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs1402438452 |
-0.595 | 0.627 | N | 0.593 | 0.236 | 0.483448007585 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| S/F | rs1402438452 |
-0.595 | 0.627 | N | 0.593 | 0.236 | 0.483448007585 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/F | rs1402438452 |
-0.595 | 0.627 | N | 0.593 | 0.236 | 0.483448007585 | gnomAD-4.0.0 | 6.57704E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47072E-05 | 0 | 0 |
| S/Y | None | -0.361 | 0.773 | N | 0.571 | 0.293 | 0.507152531357 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| S/Y | None | -0.361 | 0.773 | N | 0.571 | 0.293 | 0.507152531357 | gnomAD-4.0.0 | 4.77535E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57819E-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 | 0.0769 | likely_benign | 0.078 | benign | -0.704 | Destabilizing | 0.041 | N | 0.323 | neutral | N | 0.474348207 | None | None | N |
| S/C | 0.0757 | likely_benign | 0.0776 | benign | -0.446 | Destabilizing | 0.928 | D | 0.546 | neutral | N | 0.484200483 | None | None | N |
| S/D | 0.5263 | ambiguous | 0.529 | ambiguous | -0.039 | Destabilizing | 0.388 | N | 0.387 | neutral | None | None | None | None | N |
| S/E | 0.5728 | likely_pathogenic | 0.5666 | pathogenic | 0.008 | Stabilizing | 0.388 | N | 0.368 | neutral | None | None | None | None | N |
| S/F | 0.124 | likely_benign | 0.1264 | benign | -0.846 | Destabilizing | 0.627 | D | 0.593 | neutral | N | 0.483186525 | None | None | N |
| S/G | 0.098 | likely_benign | 0.1044 | benign | -0.997 | Destabilizing | 0.001 | N | 0.189 | neutral | None | None | None | None | N |
| S/H | 0.2245 | likely_benign | 0.2332 | benign | -1.433 | Destabilizing | 0.932 | D | 0.553 | neutral | None | None | None | None | N |
| S/I | 0.124 | likely_benign | 0.1247 | benign | -0.021 | Destabilizing | 0.241 | N | 0.537 | neutral | None | None | None | None | N |
| S/K | 0.5913 | likely_pathogenic | 0.5832 | pathogenic | -0.427 | Destabilizing | 0.388 | N | 0.387 | neutral | None | None | None | None | N |
| S/L | 0.0872 | likely_benign | 0.0842 | benign | -0.021 | Destabilizing | 0.043 | N | 0.455 | neutral | None | None | None | None | N |
| S/M | 0.1041 | likely_benign | 0.1021 | benign | 0.063 | Stabilizing | 0.01 | N | 0.261 | neutral | None | None | None | None | N |
| S/N | 0.1133 | likely_benign | 0.1216 | benign | -0.554 | Destabilizing | 0.388 | N | 0.368 | neutral | None | None | None | None | N |
| S/P | 0.8626 | likely_pathogenic | 0.8577 | pathogenic | -0.213 | Destabilizing | 0.773 | D | 0.57 | neutral | N | 0.484338614 | None | None | N |
| S/Q | 0.3557 | ambiguous | 0.3665 | ambiguous | -0.56 | Destabilizing | 0.818 | D | 0.51 | neutral | None | None | None | None | N |
| S/R | 0.5235 | ambiguous | 0.5277 | ambiguous | -0.494 | Destabilizing | 0.69 | D | 0.568 | neutral | None | None | None | None | N |
| S/T | 0.0624 | likely_benign | 0.0668 | benign | -0.52 | Destabilizing | 0.001 | N | 0.205 | neutral | N | 0.464705819 | None | None | N |
| S/V | 0.1155 | likely_benign | 0.115 | benign | -0.213 | Destabilizing | 0.116 | N | 0.5 | neutral | None | None | None | None | N |
| S/W | 0.3076 | likely_benign | 0.2931 | benign | -0.876 | Destabilizing | 0.981 | D | 0.615 | neutral | None | None | None | None | N |
| S/Y | 0.1324 | likely_benign | 0.1274 | benign | -0.551 | Destabilizing | 0.773 | D | 0.571 | neutral | N | 0.481135836 | 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.