Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23947 | 72064;72065;72066 | chr2:178574293;178574292;178574291 | chr2:179439020;179439019;179439018 |
| N2AB | 22306 | 67141;67142;67143 | chr2:178574293;178574292;178574291 | chr2:179439020;179439019;179439018 |
| N2A | 21379 | 64360;64361;64362 | chr2:178574293;178574292;178574291 | chr2:179439020;179439019;179439018 |
| N2B | 14882 | 44869;44870;44871 | chr2:178574293;178574292;178574291 | chr2:179439020;179439019;179439018 |
| Novex-1 | 15007 | 45244;45245;45246 | chr2:178574293;178574292;178574291 | chr2:179439020;179439019;179439018 |
| Novex-2 | 15074 | 45445;45446;45447 | chr2:178574293;178574292;178574291 | chr2:179439020;179439019;179439018 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs56019808  |
0.346 | 0.942 | N | 0.569 | 0.239 | 0.227934060464 | gnomAD-2.1.1 | 1.78941E-04 | None | None | None | None | N | None | 1.5709E-03 | 2.83254E-04 | None | 0 | 0 | None | 0 | None | 0 | 7.84E-06 | 1.40805E-04 |
| K/N | rs56019808 |
0.346 | 0.942 | N | 0.569 | 0.239 | 0.227934060464 | gnomAD-3.1.2 | 5.52203E-04 | None | None | None | None | N | None | 1.76116E-03 | 5.23834E-04 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 4.77555E-04 |
| K/N | rs56019808 |
0.346 | 0.942 | N | 0.569 | 0.239 | 0.227934060464 | 1000 genomes | 5.99042E-04 | None | None | None | None | N | None | 2.3E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| K/N | rs56019808 |
0.346 | 0.942 | N | 0.569 | 0.239 | 0.227934060464 | gnomAD-4.0.0 | 9.17307E-05 | None | None | None | None | N | None | 1.45291E-03 | 2.9999E-04 | None | 0 | 0 | None | 0 | 0 | 4.23872E-06 | 0 | 2.56107E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.2401 | likely_benign | 0.2365 | benign | -0.386 | Destabilizing | 0.86 | D | 0.604 | neutral | None | None | None | None | N |
| K/C | 0.6734 | likely_pathogenic | 0.672 | pathogenic | -0.409 | Destabilizing | 0.998 | D | 0.751 | deleterious | None | None | None | None | N |
| K/D | 0.6451 | likely_pathogenic | 0.6418 | pathogenic | -0.239 | Destabilizing | 0.956 | D | 0.651 | neutral | None | None | None | None | N |
| K/E | 0.1603 | likely_benign | 0.1703 | benign | -0.135 | Destabilizing | 0.698 | D | 0.583 | neutral | N | 0.468263412 | None | None | N |
| K/F | 0.7364 | likely_pathogenic | 0.7405 | pathogenic | -0.148 | Destabilizing | 0.978 | D | 0.751 | deleterious | None | None | None | None | N |
| K/G | 0.4726 | ambiguous | 0.4897 | ambiguous | -0.719 | Destabilizing | 0.956 | D | 0.633 | neutral | None | None | None | None | N |
| K/H | 0.3777 | ambiguous | 0.3754 | ambiguous | -0.989 | Destabilizing | 0.994 | D | 0.661 | neutral | None | None | None | None | N |
| K/I | 0.2887 | likely_benign | 0.2865 | benign | 0.464 | Stabilizing | 0.16 | N | 0.438 | neutral | None | None | None | None | N |
| K/L | 0.3048 | likely_benign | 0.3074 | benign | 0.464 | Stabilizing | 0.754 | D | 0.601 | neutral | None | None | None | None | N |
| K/M | 0.2033 | likely_benign | 0.1998 | benign | 0.121 | Stabilizing | 0.97 | D | 0.685 | prob.neutral | N | 0.467204956 | None | None | N |
| K/N | 0.4859 | ambiguous | 0.5034 | ambiguous | -0.327 | Destabilizing | 0.942 | D | 0.569 | neutral | N | 0.471546595 | None | None | N |
| K/P | 0.3254 | likely_benign | 0.3032 | benign | 0.21 | Stabilizing | 0.978 | D | 0.69 | prob.neutral | None | None | None | None | N |
| K/Q | 0.1188 | likely_benign | 0.1253 | benign | -0.319 | Destabilizing | 0.125 | N | 0.303 | neutral | N | 0.507552519 | None | None | N |
| K/R | 0.0871 | likely_benign | 0.0873 | benign | -0.5 | Destabilizing | 0.698 | D | 0.579 | neutral | N | 0.45396875 | None | None | N |
| K/S | 0.3945 | ambiguous | 0.4057 | ambiguous | -0.82 | Destabilizing | 0.86 | D | 0.559 | neutral | None | None | None | None | N |
| K/T | 0.1857 | likely_benign | 0.1905 | benign | -0.519 | Destabilizing | 0.942 | D | 0.635 | neutral | N | 0.470786127 | None | None | N |
| K/V | 0.2471 | likely_benign | 0.2451 | benign | 0.21 | Stabilizing | 0.754 | D | 0.593 | neutral | None | None | None | None | N |
| K/W | 0.8258 | likely_pathogenic | 0.8266 | pathogenic | -0.136 | Destabilizing | 0.998 | D | 0.735 | prob.delet. | None | None | None | None | N |
| K/Y | 0.6417 | likely_pathogenic | 0.6482 | pathogenic | 0.153 | Stabilizing | 0.993 | D | 0.742 | 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.