Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21178 | 63757;63758;63759 | chr2:178587777;178587776;178587775 | chr2:179452504;179452503;179452502 |
| N2AB | 19537 | 58834;58835;58836 | chr2:178587777;178587776;178587775 | chr2:179452504;179452503;179452502 |
| N2A | 18610 | 56053;56054;56055 | chr2:178587777;178587776;178587775 | chr2:179452504;179452503;179452502 |
| N2B | 12113 | 36562;36563;36564 | chr2:178587777;178587776;178587775 | chr2:179452504;179452503;179452502 |
| Novex-1 | 12238 | 36937;36938;36939 | chr2:178587777;178587776;178587775 | chr2:179452504;179452503;179452502 |
| Novex-2 | 12305 | 37138;37139;37140 | chr2:178587777;178587776;178587775 | chr2:179452504;179452503;179452502 |
| 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/G | None | None | 0.025 | N | 0.309 | 0.306 | 0.550545596621 | gnomAD-4.0.0 | 4.84588E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.807E-06 | 0 | 3.06185E-05 |
| A/S | rs1299782984  |
-0.668 | 0.805 | N | 0.43 | 0.194 | 0.508637063495 | gnomAD-2.1.1 | 4.16E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.65E-05 | None | 0 | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7 | likely_pathogenic | 0.6835 | pathogenic | -0.735 | Destabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| A/D | 0.7368 | likely_pathogenic | 0.6345 | pathogenic | -0.441 | Destabilizing | 0.967 | D | 0.595 | neutral | N | 0.516506015 | None | None | N |
| A/E | 0.6838 | likely_pathogenic | 0.5757 | pathogenic | -0.597 | Destabilizing | 0.975 | D | 0.566 | neutral | None | None | None | None | N |
| A/F | 0.6396 | likely_pathogenic | 0.603 | pathogenic | -0.856 | Destabilizing | 0.987 | D | 0.636 | neutral | None | None | None | None | N |
| A/G | 0.2737 | likely_benign | 0.2528 | benign | -0.196 | Destabilizing | 0.025 | N | 0.309 | neutral | N | 0.4941358 | None | None | N |
| A/H | 0.781 | likely_pathogenic | 0.7423 | pathogenic | -0.21 | Destabilizing | 0.999 | D | 0.63 | neutral | None | None | None | None | N |
| A/I | 0.4155 | ambiguous | 0.3958 | ambiguous | -0.322 | Destabilizing | 0.975 | D | 0.615 | neutral | None | None | None | None | N |
| A/K | 0.8608 | likely_pathogenic | 0.8013 | pathogenic | -0.536 | Destabilizing | 0.975 | D | 0.575 | neutral | None | None | None | None | N |
| A/L | 0.3197 | likely_benign | 0.2989 | benign | -0.322 | Destabilizing | 0.845 | D | 0.489 | neutral | None | None | None | None | N |
| A/M | 0.4357 | ambiguous | 0.4175 | ambiguous | -0.443 | Destabilizing | 0.997 | D | 0.621 | neutral | None | None | None | None | N |
| A/N | 0.5341 | ambiguous | 0.4813 | ambiguous | -0.207 | Destabilizing | 0.975 | D | 0.601 | neutral | None | None | None | None | N |
| A/P | 0.3125 | likely_benign | 0.2598 | benign | -0.245 | Destabilizing | 0.983 | D | 0.615 | neutral | N | 0.486373892 | None | None | N |
| A/Q | 0.6383 | likely_pathogenic | 0.5942 | pathogenic | -0.477 | Destabilizing | 0.987 | D | 0.628 | neutral | None | None | None | None | N |
| A/R | 0.7922 | likely_pathogenic | 0.7237 | pathogenic | -0.09 | Destabilizing | 0.975 | D | 0.615 | neutral | None | None | None | None | N |
| A/S | 0.1473 | likely_benign | 0.1376 | benign | -0.393 | Destabilizing | 0.805 | D | 0.43 | neutral | N | 0.500154905 | None | None | N |
| A/T | 0.1955 | likely_benign | 0.1769 | benign | -0.473 | Destabilizing | 0.056 | N | 0.325 | neutral | N | 0.504478147 | None | None | N |
| A/V | 0.214 | likely_benign | 0.1961 | benign | -0.245 | Destabilizing | 0.805 | D | 0.487 | neutral | N | 0.519260741 | None | None | N |
| A/W | 0.9269 | likely_pathogenic | 0.9081 | pathogenic | -0.983 | Destabilizing | 0.999 | D | 0.638 | neutral | None | None | None | None | N |
| A/Y | 0.7463 | likely_pathogenic | 0.705 | pathogenic | -0.645 | Destabilizing | 0.996 | D | 0.635 | 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.