Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24717 | 74374;74375;74376 | chr2:178571983;178571982;178571981 | chr2:179436710;179436709;179436708 |
| N2AB | 23076 | 69451;69452;69453 | chr2:178571983;178571982;178571981 | chr2:179436710;179436709;179436708 |
| N2A | 22149 | 66670;66671;66672 | chr2:178571983;178571982;178571981 | chr2:179436710;179436709;179436708 |
| N2B | 15652 | 47179;47180;47181 | chr2:178571983;178571982;178571981 | chr2:179436710;179436709;179436708 |
| Novex-1 | 15777 | 47554;47555;47556 | chr2:178571983;178571982;178571981 | chr2:179436710;179436709;179436708 |
| Novex-2 | 15844 | 47755;47756;47757 | chr2:178571983;178571982;178571981 | chr2:179436710;179436709;179436708 |
| 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/P | rs1243147358  |
0.529 | 0.99 | N | 0.445 | 0.337 | 0.295974979623 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/P | rs1243147358 |
0.529 | 0.99 | N | 0.445 | 0.337 | 0.295974979623 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs1243147358 |
0.529 | 0.99 | N | 0.445 | 0.337 | 0.295974979623 | gnomAD-4.0.0 | 5.12824E-06 | None | None | None | None | N | None | 6.77048E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 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 | 0.3858 | ambiguous | 0.4206 | ambiguous | -0.562 | Destabilizing | 0.998 | D | 0.448 | neutral | None | None | None | None | N |
| A/D | 0.2505 | likely_benign | 0.2923 | benign | -0.684 | Destabilizing | 0.97 | D | 0.484 | neutral | N | 0.400893909 | None | None | N |
| A/E | 0.1975 | likely_benign | 0.2359 | benign | -0.638 | Destabilizing | 0.978 | D | 0.413 | neutral | None | None | None | None | N |
| A/F | 0.3341 | likely_benign | 0.3329 | benign | -0.524 | Destabilizing | 0.956 | D | 0.548 | neutral | None | None | None | None | N |
| A/G | 0.1456 | likely_benign | 0.1517 | benign | -0.839 | Destabilizing | 0.904 | D | 0.413 | neutral | N | 0.484125794 | None | None | N |
| A/H | 0.3716 | ambiguous | 0.4007 | ambiguous | -0.761 | Destabilizing | 0.998 | D | 0.573 | neutral | None | None | None | None | N |
| A/I | 0.1927 | likely_benign | 0.1961 | benign | 0.115 | Stabilizing | 0.754 | D | 0.431 | neutral | None | None | None | None | N |
| A/K | 0.3341 | likely_benign | 0.3831 | ambiguous | -0.712 | Destabilizing | 0.978 | D | 0.415 | neutral | None | None | None | None | N |
| A/L | 0.1642 | likely_benign | 0.1696 | benign | 0.115 | Stabilizing | 0.559 | D | 0.445 | neutral | None | None | None | None | N |
| A/M | 0.1908 | likely_benign | 0.1995 | benign | -0.128 | Destabilizing | 0.978 | D | 0.485 | neutral | None | None | None | None | N |
| A/N | 0.1849 | likely_benign | 0.2027 | benign | -0.671 | Destabilizing | 0.978 | D | 0.534 | neutral | None | None | None | None | N |
| A/P | 0.8382 | likely_pathogenic | 0.8516 | pathogenic | -0.066 | Destabilizing | 0.99 | D | 0.445 | neutral | N | 0.513408551 | None | None | N |
| A/Q | 0.2435 | likely_benign | 0.2699 | benign | -0.685 | Destabilizing | 0.993 | D | 0.469 | neutral | None | None | None | None | N |
| A/R | 0.3235 | likely_benign | 0.3596 | ambiguous | -0.527 | Destabilizing | 0.978 | D | 0.449 | neutral | None | None | None | None | N |
| A/S | 0.0761 | likely_benign | 0.0783 | benign | -1.056 | Destabilizing | 0.698 | D | 0.46 | neutral | N | 0.374456669 | None | None | N |
| A/T | 0.0654 | likely_benign | 0.0676 | benign | -0.892 | Destabilizing | 0.025 | N | 0.161 | neutral | N | 0.439025436 | None | None | N |
| A/V | 0.104 | likely_benign | 0.1069 | benign | -0.066 | Destabilizing | 0.014 | N | 0.335 | neutral | N | 0.428616441 | None | None | N |
| A/W | 0.7812 | likely_pathogenic | 0.7899 | pathogenic | -0.934 | Destabilizing | 0.998 | D | 0.68 | prob.neutral | None | None | None | None | N |
| A/Y | 0.4193 | ambiguous | 0.4411 | ambiguous | -0.43 | Destabilizing | 0.978 | D | 0.563 | 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.