Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21314 | 64165;64166;64167 | chr2:178587271;178587270;178587269 | chr2:179451998;179451997;179451996 |
| N2AB | 19673 | 59242;59243;59244 | chr2:178587271;178587270;178587269 | chr2:179451998;179451997;179451996 |
| N2A | 18746 | 56461;56462;56463 | chr2:178587271;178587270;178587269 | chr2:179451998;179451997;179451996 |
| N2B | 12249 | 36970;36971;36972 | chr2:178587271;178587270;178587269 | chr2:179451998;179451997;179451996 |
| Novex-1 | 12374 | 37345;37346;37347 | chr2:178587271;178587270;178587269 | chr2:179451998;179451997;179451996 |
| Novex-2 | 12441 | 37546;37547;37548 | chr2:178587271;178587270;178587269 | chr2:179451998;179451997;179451996 |
| 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/L | rs776468606  |
-0.052 | 0.064 | N | 0.295 | 0.147 | 0.421060224861 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 1.29266E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/L | rs776468606 |
-0.052 | 0.064 | N | 0.295 | 0.147 | 0.421060224861 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/L | rs776468606 |
-0.052 | 0.064 | N | 0.295 | 0.147 | 0.421060224861 | gnomAD-4.0.0 | 6.19968E-06 | None | None | None | None | N | None | 2.67322E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78262E-06 | 0 | 0 |
| S/P | None | None | 0.055 | N | 0.319 | 0.212 | 0.241078983079 | gnomAD-4.0.0 | 6.84442E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09698E-06 | 0 | 1.65733E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0722 | likely_benign | 0.0647 | benign | -0.699 | Destabilizing | None | N | 0.097 | neutral | N | 0.448792217 | None | None | N |
| S/C | 0.1056 | likely_benign | 0.112 | benign | -0.49 | Destabilizing | 0.356 | N | 0.305 | neutral | None | None | None | None | N |
| S/D | 0.6323 | likely_pathogenic | 0.5647 | pathogenic | 0.372 | Stabilizing | 0.016 | N | 0.205 | neutral | None | None | None | None | N |
| S/E | 0.6895 | likely_pathogenic | 0.6141 | pathogenic | 0.334 | Stabilizing | 0.031 | N | 0.209 | neutral | None | None | None | None | N |
| S/F | 0.2775 | likely_benign | 0.231 | benign | -1.031 | Destabilizing | 0.356 | N | 0.368 | neutral | None | None | None | None | N |
| S/G | 0.0946 | likely_benign | 0.0946 | benign | -0.889 | Destabilizing | None | N | 0.092 | neutral | None | None | None | None | N |
| S/H | 0.4572 | ambiguous | 0.4027 | ambiguous | -1.274 | Destabilizing | 0.356 | N | 0.31 | neutral | None | None | None | None | N |
| S/I | 0.169 | likely_benign | 0.1581 | benign | -0.31 | Destabilizing | 0.072 | N | 0.349 | neutral | None | None | None | None | N |
| S/K | 0.809 | likely_pathogenic | 0.7409 | pathogenic | -0.508 | Destabilizing | 0.031 | N | 0.201 | neutral | None | None | None | None | N |
| S/L | 0.1055 | likely_benign | 0.0966 | benign | -0.31 | Destabilizing | 0.064 | N | 0.295 | neutral | N | 0.467994053 | None | None | N |
| S/M | 0.1482 | likely_benign | 0.1327 | benign | -0.165 | Destabilizing | 0.356 | N | 0.313 | neutral | None | None | None | None | N |
| S/N | 0.1487 | likely_benign | 0.1378 | benign | -0.373 | Destabilizing | 0.001 | N | 0.137 | neutral | None | None | None | None | N |
| S/P | 0.8813 | likely_pathogenic | 0.8445 | pathogenic | -0.408 | Destabilizing | 0.055 | N | 0.319 | neutral | N | 0.481573001 | None | None | N |
| S/Q | 0.5398 | ambiguous | 0.469 | ambiguous | -0.535 | Destabilizing | 0.136 | N | 0.289 | neutral | None | None | None | None | N |
| S/R | 0.788 | likely_pathogenic | 0.7275 | pathogenic | -0.376 | Destabilizing | 0.072 | N | 0.287 | neutral | None | None | None | None | N |
| S/T | 0.0783 | likely_benign | 0.0766 | benign | -0.495 | Destabilizing | None | N | 0.111 | neutral | N | 0.417181231 | None | None | N |
| S/V | 0.1421 | likely_benign | 0.1262 | benign | -0.408 | Destabilizing | 0.016 | N | 0.293 | neutral | None | None | None | None | N |
| S/W | 0.5326 | ambiguous | 0.479 | ambiguous | -0.972 | Destabilizing | 0.924 | D | 0.375 | neutral | N | 0.493689775 | None | None | N |
| S/Y | 0.2787 | likely_benign | 0.2456 | benign | -0.715 | Destabilizing | 0.356 | N | 0.348 | 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.