Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15487 | 46684;46685;46686 | chr2:178619858;178619857;178619856 | chr2:179484585;179484584;179484583 |
| N2AB | 13846 | 41761;41762;41763 | chr2:178619858;178619857;178619856 | chr2:179484585;179484584;179484583 |
| N2A | 12919 | 38980;38981;38982 | chr2:178619858;178619857;178619856 | chr2:179484585;179484584;179484583 |
| N2B | 6422 | 19489;19490;19491 | chr2:178619858;178619857;178619856 | chr2:179484585;179484584;179484583 |
| Novex-1 | 6547 | 19864;19865;19866 | chr2:178619858;178619857;178619856 | chr2:179484585;179484584;179484583 |
| Novex-2 | 6614 | 20065;20066;20067 | chr2:178619858;178619857;178619856 | chr2:179484585;179484584;179484583 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | None | None | 0.625 | N | 0.485 | 0.156 | 0.28492961333 | gnomAD-4.0.0 | 6.85105E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00165E-07 | 0 | 0 |
| Q/K | None | None | 0.051 | N | 0.161 | 0.223 | 0.223847106136 | gnomAD-4.0.0 | 6.85105E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00165E-07 | 0 | 0 |
| Q/P | None | None | 0.989 | N | 0.547 | 0.332 | 0.392395365052 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 3.66327E-05 |
| Q/R | None | None | 0.669 | N | 0.498 | 0.181 | 0.248417906384 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2229 | likely_benign | 0.2148 | benign | -0.324 | Destabilizing | 0.688 | D | 0.489 | neutral | None | None | None | None | N |
| Q/C | 0.7873 | likely_pathogenic | 0.8022 | pathogenic | 0.107 | Stabilizing | 0.998 | D | 0.543 | neutral | None | None | None | None | N |
| Q/D | 0.5271 | ambiguous | 0.4757 | ambiguous | -0.029 | Destabilizing | 0.915 | D | 0.497 | neutral | None | None | None | None | N |
| Q/E | 0.1092 | likely_benign | 0.0986 | benign | -0.007 | Destabilizing | 0.625 | D | 0.485 | neutral | N | 0.469217228 | None | None | N |
| Q/F | 0.8134 | likely_pathogenic | 0.7957 | pathogenic | -0.301 | Destabilizing | 0.949 | D | 0.571 | neutral | None | None | None | None | N |
| Q/G | 0.3563 | ambiguous | 0.3292 | benign | -0.58 | Destabilizing | 0.915 | D | 0.535 | neutral | None | None | None | None | N |
| Q/H | 0.3451 | ambiguous | 0.3017 | benign | -0.382 | Destabilizing | 0.989 | D | 0.49 | neutral | N | 0.506468271 | None | None | N |
| Q/I | 0.4863 | ambiguous | 0.4631 | ambiguous | 0.283 | Stabilizing | 0.728 | D | 0.569 | neutral | None | None | None | None | N |
| Q/K | 0.1001 | likely_benign | 0.0921 | benign | -0.129 | Destabilizing | 0.051 | N | 0.161 | neutral | N | 0.432035968 | None | None | N |
| Q/L | 0.211 | likely_benign | 0.1934 | benign | 0.283 | Stabilizing | 0.012 | N | 0.307 | neutral | N | 0.506613924 | None | None | N |
| Q/M | 0.4341 | ambiguous | 0.4254 | ambiguous | 0.392 | Stabilizing | 0.949 | D | 0.499 | neutral | None | None | None | None | N |
| Q/N | 0.3903 | ambiguous | 0.3626 | ambiguous | -0.467 | Destabilizing | 0.915 | D | 0.507 | neutral | None | None | None | None | N |
| Q/P | 0.3758 | ambiguous | 0.3301 | benign | 0.111 | Stabilizing | 0.989 | D | 0.547 | neutral | N | 0.506468271 | None | None | N |
| Q/R | 0.1305 | likely_benign | 0.1213 | benign | None | Stabilizing | 0.669 | D | 0.498 | neutral | N | 0.446262933 | None | None | N |
| Q/S | 0.2805 | likely_benign | 0.2775 | benign | -0.484 | Destabilizing | 0.728 | D | 0.489 | neutral | None | None | None | None | N |
| Q/T | 0.2341 | likely_benign | 0.2274 | benign | -0.293 | Destabilizing | 0.067 | N | 0.263 | neutral | None | None | None | None | N |
| Q/V | 0.2778 | likely_benign | 0.271 | benign | 0.111 | Stabilizing | 0.728 | D | 0.529 | neutral | None | None | None | None | N |
| Q/W | 0.7942 | likely_pathogenic | 0.7578 | pathogenic | -0.27 | Destabilizing | 0.998 | D | 0.565 | neutral | None | None | None | None | N |
| Q/Y | 0.6931 | likely_pathogenic | 0.6611 | pathogenic | -0.036 | Destabilizing | 0.991 | D | 0.555 | 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.