Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27357 | 82294;82295;82296 | chr2:178564063;178564062;178564061 | chr2:179428790;179428789;179428788 |
| N2AB | 25716 | 77371;77372;77373 | chr2:178564063;178564062;178564061 | chr2:179428790;179428789;179428788 |
| N2A | 24789 | 74590;74591;74592 | chr2:178564063;178564062;178564061 | chr2:179428790;179428789;179428788 |
| N2B | 18292 | 55099;55100;55101 | chr2:178564063;178564062;178564061 | chr2:179428790;179428789;179428788 |
| Novex-1 | 18417 | 55474;55475;55476 | chr2:178564063;178564062;178564061 | chr2:179428790;179428789;179428788 |
| Novex-2 | 18484 | 55675;55676;55677 | chr2:178564063;178564062;178564061 | chr2:179428790;179428789;179428788 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/R | rs754175266  |
0.122 | 0.999 | N | 0.59 | 0.365 | 0.58308304948 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.56E-05 | 0 |
| T/R | rs754175266 |
0.122 | 0.999 | N | 0.59 | 0.365 | 0.58308304948 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/R | rs754175266 |
0.122 | 0.999 | N | 0.59 | 0.365 | 0.58308304948 | gnomAD-4.0.0 | 1.54934E-05 | None | None | None | None | I | None | 0 | 1.66739E-05 | None | 0 | 0 | None | 0 | 1.64474E-04 | 1.86481E-05 | 0 | 1.60118E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.086 | likely_benign | 0.0887 | benign | -0.367 | Destabilizing | 0.973 | D | 0.466 | neutral | N | 0.483135116 | None | None | I |
| T/C | 0.3235 | likely_benign | 0.3424 | ambiguous | -0.191 | Destabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | I |
| T/D | 0.3172 | likely_benign | 0.3631 | ambiguous | 0.203 | Stabilizing | 1.0 | D | 0.598 | neutral | None | None | None | None | I |
| T/E | 0.2135 | likely_benign | 0.2426 | benign | 0.111 | Stabilizing | 1.0 | D | 0.545 | neutral | None | None | None | None | I |
| T/F | 0.1735 | likely_benign | 0.1917 | benign | -0.983 | Destabilizing | 0.999 | D | 0.663 | neutral | None | None | None | None | I |
| T/G | 0.2213 | likely_benign | 0.2405 | benign | -0.454 | Destabilizing | 1.0 | D | 0.569 | neutral | None | None | None | None | I |
| T/H | 0.2282 | likely_benign | 0.2507 | benign | -0.829 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | I |
| T/I | 0.1212 | likely_benign | 0.1305 | benign | -0.259 | Destabilizing | 0.978 | D | 0.531 | neutral | N | 0.487138042 | None | None | I |
| T/K | 0.2024 | likely_benign | 0.2288 | benign | -0.246 | Destabilizing | 0.999 | D | 0.555 | neutral | N | 0.501981702 | None | None | I |
| T/L | 0.0999 | likely_benign | 0.1064 | benign | -0.259 | Destabilizing | 0.983 | D | 0.516 | neutral | None | None | None | None | I |
| T/M | 0.0807 | likely_benign | 0.0831 | benign | 0.01 | Stabilizing | 1.0 | D | 0.592 | neutral | None | None | None | None | I |
| T/N | 0.1016 | likely_benign | 0.1078 | benign | 0.008 | Stabilizing | 1.0 | D | 0.573 | neutral | None | None | None | None | I |
| T/P | 0.3849 | ambiguous | 0.4222 | ambiguous | -0.269 | Destabilizing | 0.999 | D | 0.583 | neutral | N | 0.509761747 | None | None | I |
| T/Q | 0.1764 | likely_benign | 0.1916 | benign | -0.252 | Destabilizing | 1.0 | D | 0.599 | neutral | None | None | None | None | I |
| T/R | 0.1679 | likely_benign | 0.1956 | benign | -0.018 | Destabilizing | 0.999 | D | 0.59 | neutral | N | 0.518474094 | None | None | I |
| T/S | 0.0876 | likely_benign | 0.092 | benign | -0.197 | Destabilizing | 0.994 | D | 0.496 | neutral | N | 0.425235859 | None | None | I |
| T/V | 0.1033 | likely_benign | 0.1089 | benign | -0.269 | Destabilizing | 0.611 | D | 0.273 | neutral | None | None | None | None | I |
| T/W | 0.4885 | ambiguous | 0.5342 | ambiguous | -0.992 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| T/Y | 0.2345 | likely_benign | 0.2577 | benign | -0.697 | Destabilizing | 1.0 | D | 0.661 | 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.