Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32912 | 98959;98960;98961 | chr2:178539201;178539200;178539199 | chr2:179403928;179403927;179403926 |
| N2AB | 31271 | 94036;94037;94038 | chr2:178539201;178539200;178539199 | chr2:179403928;179403927;179403926 |
| N2A | 30344 | 91255;91256;91257 | chr2:178539201;178539200;178539199 | chr2:179403928;179403927;179403926 |
| N2B | 23847 | 71764;71765;71766 | chr2:178539201;178539200;178539199 | chr2:179403928;179403927;179403926 |
| Novex-1 | 23972 | 72139;72140;72141 | chr2:178539201;178539200;178539199 | chr2:179403928;179403927;179403926 |
| Novex-2 | 24039 | 72340;72341;72342 | chr2:178539201;178539200;178539199 | chr2:179403928;179403927;179403926 |
| 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/G | None | None | 0.98 | N | 0.433 | 0.211 | 0.208000267992 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/N | None | None | 0.98 | N | 0.522 | 0.283 | 0.163833314356 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/R | None | None | 0.994 | N | 0.515 | 0.319 | 0.311691414656 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07607E-05 | 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 | 0.1237 | likely_benign | 0.1273 | benign | -0.64 | Destabilizing | 0.931 | D | 0.499 | neutral | None | None | None | None | N |
| S/C | 0.1575 | likely_benign | 0.1729 | benign | -0.426 | Destabilizing | 0.151 | N | 0.457 | neutral | D | 0.522178042 | None | None | N |
| S/D | 0.5475 | ambiguous | 0.5709 | pathogenic | -0.369 | Destabilizing | 0.985 | D | 0.481 | neutral | None | None | None | None | N |
| S/E | 0.7504 | likely_pathogenic | 0.7492 | pathogenic | -0.435 | Destabilizing | 0.985 | D | 0.482 | neutral | None | None | None | None | N |
| S/F | 0.3122 | likely_benign | 0.2956 | benign | -1.164 | Destabilizing | 0.999 | D | 0.588 | neutral | None | None | None | None | N |
| S/G | 0.1411 | likely_benign | 0.152 | benign | -0.788 | Destabilizing | 0.98 | D | 0.433 | neutral | N | 0.51224905 | None | None | N |
| S/H | 0.4788 | ambiguous | 0.454 | ambiguous | -1.383 | Destabilizing | 1.0 | D | 0.519 | neutral | None | None | None | None | N |
| S/I | 0.4182 | ambiguous | 0.3707 | ambiguous | -0.366 | Destabilizing | 0.989 | D | 0.564 | neutral | N | 0.481830172 | None | None | N |
| S/K | 0.8877 | likely_pathogenic | 0.8776 | pathogenic | -0.605 | Destabilizing | 0.97 | D | 0.486 | neutral | None | None | None | None | N |
| S/L | 0.1646 | likely_benign | 0.1608 | benign | -0.366 | Destabilizing | 0.97 | D | 0.491 | neutral | None | None | None | None | N |
| S/M | 0.2614 | likely_benign | 0.2289 | benign | 0.126 | Stabilizing | 1.0 | D | 0.525 | neutral | None | None | None | None | N |
| S/N | 0.1355 | likely_benign | 0.1385 | benign | -0.439 | Destabilizing | 0.98 | D | 0.522 | neutral | N | 0.413295564 | None | None | N |
| S/P | 0.9511 | likely_pathogenic | 0.9571 | pathogenic | -0.428 | Destabilizing | 0.999 | D | 0.523 | neutral | None | None | None | None | N |
| S/Q | 0.6814 | likely_pathogenic | 0.6478 | pathogenic | -0.775 | Destabilizing | 0.999 | D | 0.495 | neutral | None | None | None | None | N |
| S/R | 0.8628 | likely_pathogenic | 0.8597 | pathogenic | -0.377 | Destabilizing | 0.994 | D | 0.515 | neutral | N | 0.451296591 | None | None | N |
| S/T | 0.0881 | likely_benign | 0.0812 | benign | -0.517 | Destabilizing | 0.122 | N | 0.123 | neutral | N | 0.422488263 | None | None | N |
| S/V | 0.3727 | ambiguous | 0.3369 | benign | -0.428 | Destabilizing | 0.97 | D | 0.524 | neutral | None | None | None | None | N |
| S/W | 0.6001 | likely_pathogenic | 0.5747 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| S/Y | 0.2527 | likely_benign | 0.2482 | benign | -0.839 | Destabilizing | 0.999 | D | 0.591 | 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.