Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16134 | 48625;48626;48627 | chr2:178615701;178615700;178615699 | chr2:179480428;179480427;179480426 |
| N2AB | 14493 | 43702;43703;43704 | chr2:178615701;178615700;178615699 | chr2:179480428;179480427;179480426 |
| N2A | 13566 | 40921;40922;40923 | chr2:178615701;178615700;178615699 | chr2:179480428;179480427;179480426 |
| N2B | 7069 | 21430;21431;21432 | chr2:178615701;178615700;178615699 | chr2:179480428;179480427;179480426 |
| Novex-1 | 7194 | 21805;21806;21807 | chr2:178615701;178615700;178615699 | chr2:179480428;179480427;179480426 |
| Novex-2 | 7261 | 22006;22007;22008 | chr2:178615701;178615700;178615699 | chr2:179480428;179480427;179480426 |
| 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 | rs772886163  |
0.411 | 0.999 | D | 0.625 | 0.298 | 0.128392430309 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/N | rs772886163 |
0.411 | 0.999 | D | 0.625 | 0.298 | 0.128392430309 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | rs772886163 |
0.411 | 0.999 | D | 0.625 | 0.298 | 0.128392430309 | gnomAD-4.0.0 | 1.31614E-05 | None | None | None | None | I | None | 4.82649E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs1197839427 |
0.223 | 0.64 | N | 0.318 | 0.162 | 0.18995819373 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/R | rs1197839427 |
0.223 | 0.64 | N | 0.318 | 0.162 | 0.18995819373 | gnomAD-4.0.0 | 1.59398E-06 | None | None | None | None | I | None | 0 | 2.28791E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.5246 | ambiguous | 0.5667 | pathogenic | 0.05 | Stabilizing | 0.998 | D | 0.546 | neutral | None | None | None | None | I |
| K/C | 0.862 | likely_pathogenic | 0.8845 | pathogenic | -0.203 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| K/D | 0.7884 | likely_pathogenic | 0.8177 | pathogenic | -0.228 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | I |
| K/E | 0.4012 | ambiguous | 0.4196 | ambiguous | -0.251 | Destabilizing | 0.996 | D | 0.485 | neutral | N | 0.472196989 | None | None | I |
| K/F | 0.9133 | likely_pathogenic | 0.9191 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | I |
| K/G | 0.7468 | likely_pathogenic | 0.775 | pathogenic | -0.077 | Destabilizing | 1.0 | D | 0.521 | neutral | None | None | None | None | I |
| K/H | 0.5222 | ambiguous | 0.548 | ambiguous | -0.249 | Destabilizing | 1.0 | D | 0.618 | neutral | None | None | None | None | I |
| K/I | 0.4537 | ambiguous | 0.4726 | ambiguous | 0.298 | Stabilizing | 1.0 | D | 0.668 | neutral | N | 0.475071912 | None | None | I |
| K/L | 0.5564 | ambiguous | 0.5841 | pathogenic | 0.298 | Stabilizing | 1.0 | D | 0.521 | neutral | None | None | None | None | I |
| K/M | 0.4486 | ambiguous | 0.4856 | ambiguous | 0.089 | Stabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | I |
| K/N | 0.6693 | likely_pathogenic | 0.6973 | pathogenic | 0.265 | Stabilizing | 0.999 | D | 0.625 | neutral | D | 0.53701664 | None | None | I |
| K/P | 0.7815 | likely_pathogenic | 0.819 | pathogenic | 0.239 | Stabilizing | 1.0 | D | 0.62 | neutral | None | None | None | None | I |
| K/Q | 0.2597 | likely_benign | 0.2717 | benign | 0.073 | Stabilizing | 0.999 | D | 0.622 | neutral | N | 0.481554988 | None | None | I |
| K/R | 0.1063 | likely_benign | 0.1038 | benign | 0.043 | Stabilizing | 0.64 | D | 0.318 | neutral | N | 0.477753269 | None | None | I |
| K/S | 0.6274 | likely_pathogenic | 0.6636 | pathogenic | -0.118 | Destabilizing | 0.998 | D | 0.564 | neutral | None | None | None | None | I |
| K/T | 0.3112 | likely_benign | 0.3424 | ambiguous | -0.027 | Destabilizing | 0.999 | D | 0.585 | neutral | N | 0.50308932 | None | None | I |
| K/V | 0.4583 | ambiguous | 0.4893 | ambiguous | 0.239 | Stabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | I |
| K/W | 0.9209 | likely_pathogenic | 0.9282 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| K/Y | 0.8196 | likely_pathogenic | 0.8303 | pathogenic | -0.033 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | I |
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.