Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25899 | 77920;77921;77922 | chr2:178568437;178568436;178568435 | chr2:179433164;179433163;179433162 |
| N2AB | 24258 | 72997;72998;72999 | chr2:178568437;178568436;178568435 | chr2:179433164;179433163;179433162 |
| N2A | 23331 | 70216;70217;70218 | chr2:178568437;178568436;178568435 | chr2:179433164;179433163;179433162 |
| N2B | 16834 | 50725;50726;50727 | chr2:178568437;178568436;178568435 | chr2:179433164;179433163;179433162 |
| Novex-1 | 16959 | 51100;51101;51102 | chr2:178568437;178568436;178568435 | chr2:179433164;179433163;179433162 |
| Novex-2 | 17026 | 51301;51302;51303 | chr2:178568437;178568436;178568435 | chr2:179433164;179433163;179433162 |
| 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/E | rs1466717136  |
None | 0.892 | N | 0.571 | 0.245 | 0.261217442401 | 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/E | rs1466717136 |
None | 0.892 | N | 0.571 | 0.245 | 0.261217442401 | gnomAD-4.0.0 | 3.84574E-06 | None | None | None | None | N | None | 1.69193E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78842E-06 | 0 | 0 |
| K/I | rs750227997 |
0.42 | 0.935 | N | 0.704 | 0.288 | 0.426787303895 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| K/I | rs750227997 |
0.42 | 0.935 | N | 0.704 | 0.288 | 0.426787303895 | gnomAD-4.0.0 | 3.1848E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71948E-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 | 0.2767 | likely_benign | 0.2873 | benign | -0.615 | Destabilizing | 0.845 | D | 0.615 | neutral | None | None | None | None | N |
| K/C | 0.3926 | ambiguous | 0.3672 | ambiguous | -0.629 | Destabilizing | 0.999 | D | 0.787 | deleterious | None | None | None | None | N |
| K/D | 0.6102 | likely_pathogenic | 0.632 | pathogenic | 0.153 | Stabilizing | 0.987 | D | 0.728 | prob.delet. | None | None | None | None | N |
| K/E | 0.2015 | likely_benign | 0.2077 | benign | 0.252 | Stabilizing | 0.892 | D | 0.571 | neutral | N | 0.457875847 | None | None | N |
| K/F | 0.5576 | ambiguous | 0.5748 | pathogenic | -0.435 | Destabilizing | 0.975 | D | 0.775 | deleterious | None | None | None | None | N |
| K/G | 0.4936 | ambiguous | 0.5207 | ambiguous | -0.949 | Destabilizing | 0.987 | D | 0.657 | neutral | None | None | None | None | N |
| K/H | 0.173 | likely_benign | 0.167 | benign | -1.255 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | None | N |
| K/I | 0.1614 | likely_benign | 0.1723 | benign | 0.235 | Stabilizing | 0.935 | D | 0.704 | prob.neutral | N | 0.513326485 | None | None | N |
| K/L | 0.2248 | likely_benign | 0.2375 | benign | 0.235 | Stabilizing | 0.845 | D | 0.622 | neutral | None | None | None | None | N |
| K/M | 0.1614 | likely_benign | 0.1698 | benign | 0.097 | Stabilizing | 0.997 | D | 0.712 | prob.delet. | None | None | None | None | N |
| K/N | 0.3519 | ambiguous | 0.3793 | ambiguous | -0.313 | Destabilizing | 0.983 | D | 0.613 | neutral | N | 0.482542218 | None | None | N |
| K/P | 0.9353 | likely_pathogenic | 0.9519 | pathogenic | -0.018 | Destabilizing | 0.996 | D | 0.741 | deleterious | None | None | None | None | N |
| K/Q | 0.1003 | likely_benign | 0.0995 | benign | -0.394 | Destabilizing | 0.967 | D | 0.624 | neutral | N | 0.494623294 | None | None | N |
| K/R | 0.0704 | likely_benign | 0.0724 | benign | -0.455 | Destabilizing | 0.056 | N | 0.367 | neutral | N | 0.42549407 | None | None | N |
| K/S | 0.3399 | likely_benign | 0.3494 | ambiguous | -1.027 | Destabilizing | 0.957 | D | 0.589 | neutral | None | None | None | None | N |
| K/T | 0.1148 | likely_benign | 0.1206 | benign | -0.719 | Destabilizing | 0.892 | D | 0.673 | neutral | N | 0.458297135 | None | None | N |
| K/V | 0.1513 | likely_benign | 0.1585 | benign | -0.018 | Destabilizing | 0.073 | N | 0.423 | neutral | None | None | None | None | N |
| K/W | 0.6299 | likely_pathogenic | 0.6298 | pathogenic | -0.285 | Destabilizing | 0.999 | D | 0.761 | deleterious | None | None | None | None | N |
| K/Y | 0.4371 | ambiguous | 0.4512 | ambiguous | 0.007 | Stabilizing | 0.987 | D | 0.779 | 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.