Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25862 | 77809;77810;77811 | chr2:178568548;178568547;178568546 | chr2:179433275;179433274;179433273 |
| N2AB | 24221 | 72886;72887;72888 | chr2:178568548;178568547;178568546 | chr2:179433275;179433274;179433273 |
| N2A | 23294 | 70105;70106;70107 | chr2:178568548;178568547;178568546 | chr2:179433275;179433274;179433273 |
| N2B | 16797 | 50614;50615;50616 | chr2:178568548;178568547;178568546 | chr2:179433275;179433274;179433273 |
| Novex-1 | 16922 | 50989;50990;50991 | chr2:178568548;178568547;178568546 | chr2:179433275;179433274;179433273 |
| Novex-2 | 16989 | 51190;51191;51192 | chr2:178568548;178568547;178568546 | chr2:179433275;179433274;179433273 |
| 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/M | rs1410859942  |
0.25 | 1.0 | N | 0.413 | 0.341 | 0.302793454619 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.86E-06 | 1.40766E-04 |
| K/M | rs1410859942 |
0.25 | 1.0 | N | 0.413 | 0.341 | 0.302793454619 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/M | rs1410859942 |
0.25 | 1.0 | N | 0.413 | 0.341 | 0.302793454619 | gnomAD-4.0.0 | 3.84481E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39407E-06 | 0 | 5.69217E-05 |
| K/N | rs747449030 |
None | 0.98 | N | 0.376 | 0.264 | 0.233150807113 | gnomAD-4.0.0 | 4.79036E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29727E-06 | 0 | 0 |
| K/R | None | None | 0.031 | N | 0.201 | 0.11 | 0.241078983079 | gnomAD-4.0.0 | 1.59193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85964E-06 | 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 | 0.5672 | likely_pathogenic | 0.5067 | ambiguous | 0.034 | Stabilizing | 0.97 | D | 0.451 | neutral | None | None | None | None | N |
| K/C | 0.8125 | likely_pathogenic | 0.7483 | pathogenic | 0.077 | Stabilizing | 1.0 | D | 0.561 | neutral | None | None | None | None | N |
| K/D | 0.8996 | likely_pathogenic | 0.8711 | pathogenic | -0.023 | Destabilizing | 0.996 | D | 0.348 | neutral | None | None | None | None | N |
| K/E | 0.4112 | ambiguous | 0.3747 | ambiguous | -0.004 | Destabilizing | 0.961 | D | 0.426 | neutral | N | 0.47642903 | None | None | N |
| K/F | 0.9049 | likely_pathogenic | 0.8822 | pathogenic | -0.072 | Destabilizing | 0.999 | D | 0.519 | neutral | None | None | None | None | N |
| K/G | 0.7172 | likely_pathogenic | 0.6488 | pathogenic | -0.191 | Destabilizing | 0.985 | D | 0.429 | neutral | None | None | None | None | N |
| K/H | 0.5298 | ambiguous | 0.4648 | ambiguous | -0.487 | Destabilizing | 0.999 | D | 0.4 | neutral | None | None | None | None | N |
| K/I | 0.496 | ambiguous | 0.4625 | ambiguous | 0.562 | Stabilizing | 0.999 | D | 0.513 | neutral | None | None | None | None | N |
| K/L | 0.5678 | likely_pathogenic | 0.503 | ambiguous | 0.562 | Stabilizing | 0.97 | D | 0.429 | neutral | None | None | None | None | N |
| K/M | 0.4294 | ambiguous | 0.3888 | ambiguous | 0.313 | Stabilizing | 1.0 | D | 0.413 | neutral | N | 0.455856698 | None | None | N |
| K/N | 0.8059 | likely_pathogenic | 0.7562 | pathogenic | 0.423 | Stabilizing | 0.98 | D | 0.376 | neutral | N | 0.460149112 | None | None | N |
| K/P | 0.7499 | likely_pathogenic | 0.6923 | pathogenic | 0.414 | Stabilizing | 0.999 | D | 0.395 | neutral | None | None | None | None | N |
| K/Q | 0.2432 | likely_benign | 0.2111 | benign | 0.27 | Stabilizing | 0.961 | D | 0.403 | neutral | N | 0.506386578 | None | None | N |
| K/R | 0.077 | likely_benign | 0.0712 | benign | 0.03 | Stabilizing | 0.031 | N | 0.201 | neutral | N | 0.385596382 | None | None | N |
| K/S | 0.7342 | likely_pathogenic | 0.6746 | pathogenic | -0.007 | Destabilizing | 0.985 | D | 0.409 | neutral | None | None | None | None | N |
| K/T | 0.4151 | ambiguous | 0.3723 | ambiguous | 0.16 | Stabilizing | 0.98 | D | 0.389 | neutral | N | 0.50173012 | None | None | N |
| K/V | 0.494 | ambiguous | 0.4511 | ambiguous | 0.414 | Stabilizing | 0.996 | D | 0.421 | neutral | None | None | None | None | N |
| K/W | 0.8761 | likely_pathogenic | 0.8442 | pathogenic | -0.106 | Destabilizing | 1.0 | D | 0.603 | neutral | None | None | None | None | N |
| K/Y | 0.8285 | likely_pathogenic | 0.7951 | pathogenic | 0.225 | Stabilizing | 0.999 | D | 0.475 | 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.