Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31958 | 96097;96098;96099 | chr2:178544357;178544356;178544355 | chr2:179409084;179409083;179409082 |
| N2AB | 30317 | 91174;91175;91176 | chr2:178544357;178544356;178544355 | chr2:179409084;179409083;179409082 |
| N2A | 29390 | 88393;88394;88395 | chr2:178544357;178544356;178544355 | chr2:179409084;179409083;179409082 |
| N2B | 22893 | 68902;68903;68904 | chr2:178544357;178544356;178544355 | chr2:179409084;179409083;179409082 |
| Novex-1 | 23018 | 69277;69278;69279 | chr2:178544357;178544356;178544355 | chr2:179409084;179409083;179409082 |
| Novex-2 | 23085 | 69478;69479;69480 | chr2:178544357;178544356;178544355 | chr2:179409084;179409083;179409082 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs763270971  |
-0.445 | 0.241 | N | 0.432 | 0.143 | 0.16115917748 | gnomAD-2.1.1 | 3.93E-05 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 7.81E-05 | 0 |
| R/Q | rs763270971 |
-0.445 | 0.241 | N | 0.432 | 0.143 | 0.16115917748 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/Q | rs763270971 |
-0.445 | 0.241 | N | 0.432 | 0.143 | 0.16115917748 | gnomAD-4.0.0 | 9.66778E-05 | None | None | None | None | N | None | 1.33518E-05 | 1.66711E-05 | None | 0 | 0 | None | 0 | 0 | 1.23756E-04 | 1.09794E-05 | 1.12075E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.5358 | ambiguous | 0.5146 | ambiguous | -0.817 | Destabilizing | 0.547 | D | 0.632 | neutral | None | None | None | None | N |
| R/C | 0.23 | likely_benign | 0.2195 | benign | -0.706 | Destabilizing | 0.995 | D | 0.737 | prob.delet. | None | None | None | None | N |
| R/D | 0.8621 | likely_pathogenic | 0.8449 | pathogenic | -0.077 | Destabilizing | 0.894 | D | 0.717 | prob.delet. | None | None | None | None | N |
| R/E | 0.5693 | likely_pathogenic | 0.5479 | ambiguous | 0.072 | Stabilizing | 0.547 | D | 0.564 | neutral | None | None | None | None | N |
| R/F | 0.741 | likely_pathogenic | 0.729 | pathogenic | -0.479 | Destabilizing | 0.981 | D | 0.767 | deleterious | None | None | None | None | N |
| R/G | 0.482 | ambiguous | 0.4524 | ambiguous | -1.165 | Destabilizing | 0.822 | D | 0.676 | prob.neutral | D | 0.522548975 | None | None | N |
| R/H | 0.1732 | likely_benign | 0.1649 | benign | -1.482 | Destabilizing | 0.894 | D | 0.684 | prob.neutral | None | None | None | None | N |
| R/I | 0.4196 | ambiguous | 0.3926 | ambiguous | 0.131 | Stabilizing | 0.945 | D | 0.777 | deleterious | None | None | None | None | N |
| R/K | 0.1201 | likely_benign | 0.1212 | benign | -0.82 | Destabilizing | 0.332 | N | 0.567 | neutral | None | None | None | None | N |
| R/L | 0.3437 | ambiguous | 0.3346 | benign | 0.131 | Stabilizing | 0.822 | D | 0.676 | prob.neutral | N | 0.487820326 | None | None | N |
| R/M | 0.4508 | ambiguous | 0.4204 | ambiguous | -0.256 | Destabilizing | 0.985 | D | 0.749 | deleterious | None | None | None | None | N |
| R/N | 0.7731 | likely_pathogenic | 0.7561 | pathogenic | -0.337 | Destabilizing | 0.894 | D | 0.659 | neutral | None | None | None | None | N |
| R/P | 0.4369 | ambiguous | 0.4335 | ambiguous | -0.164 | Destabilizing | 0.97 | D | 0.763 | deleterious | N | 0.471544152 | None | None | N |
| R/Q | 0.1463 | likely_benign | 0.1419 | benign | -0.418 | Destabilizing | 0.241 | N | 0.432 | neutral | N | 0.483278511 | None | None | N |
| R/S | 0.6833 | likely_pathogenic | 0.6566 | pathogenic | -1.09 | Destabilizing | 0.547 | D | 0.706 | prob.neutral | None | None | None | None | N |
| R/T | 0.403 | ambiguous | 0.3762 | ambiguous | -0.744 | Destabilizing | 0.894 | D | 0.737 | prob.delet. | None | None | None | None | N |
| R/V | 0.4785 | ambiguous | 0.4537 | ambiguous | -0.164 | Destabilizing | 0.894 | D | 0.765 | deleterious | None | None | None | None | N |
| R/W | 0.3352 | likely_benign | 0.3236 | benign | -0.113 | Destabilizing | 0.995 | D | 0.713 | prob.delet. | None | None | None | None | N |
| R/Y | 0.6007 | likely_pathogenic | 0.5847 | pathogenic | 0.155 | Stabilizing | 0.945 | D | 0.761 | deleterious | 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.