Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29003 | 87232;87233;87234 | chr2:178558452;178558451;178558450 | chr2:179423179;179423178;179423177 |
| N2AB | 27362 | 82309;82310;82311 | chr2:178558452;178558451;178558450 | chr2:179423179;179423178;179423177 |
| N2A | 26435 | 79528;79529;79530 | chr2:178558452;178558451;178558450 | chr2:179423179;179423178;179423177 |
| N2B | 19938 | 60037;60038;60039 | chr2:178558452;178558451;178558450 | chr2:179423179;179423178;179423177 |
| Novex-1 | 20063 | 60412;60413;60414 | chr2:178558452;178558451;178558450 | chr2:179423179;179423178;179423177 |
| Novex-2 | 20130 | 60613;60614;60615 | chr2:178558452;178558451;178558450 | chr2:179423179;179423178;179423177 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | 0.993 | N | 0.559 | 0.391 | 0.368743488249 | gnomAD-4.0.0 | 1.59128E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85796E-06 | 0 | 0 |
| S/F | rs754378461  |
-0.989 | 0.927 | N | 0.591 | 0.321 | 0.483596354421 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| S/F | rs754378461 |
-0.989 | 0.927 | N | 0.591 | 0.321 | 0.483596354421 | gnomAD-4.0.0 | 4.77383E-06 | None | None | None | None | N | None | 0 | 2.28624E-05 | None | 0 | 0 | None | 0 | 0 | 5.71592E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0657 | likely_benign | 0.0654 | benign | -0.326 | Destabilizing | 0.425 | N | 0.351 | neutral | N | 0.490814985 | None | None | N |
| S/C | 0.0785 | likely_benign | 0.0676 | benign | -0.261 | Destabilizing | 0.993 | D | 0.559 | neutral | N | 0.477791247 | None | None | N |
| S/D | 0.2179 | likely_benign | 0.2032 | benign | 0.192 | Stabilizing | 0.007 | N | 0.153 | neutral | None | None | None | None | N |
| S/E | 0.2754 | likely_benign | 0.2549 | benign | 0.095 | Stabilizing | 0.329 | N | 0.359 | neutral | None | None | None | None | N |
| S/F | 0.1185 | likely_benign | 0.1122 | benign | -0.956 | Destabilizing | 0.927 | D | 0.591 | neutral | N | 0.514499921 | None | None | N |
| S/G | 0.0687 | likely_benign | 0.0651 | benign | -0.424 | Destabilizing | 0.495 | N | 0.377 | neutral | None | None | None | None | N |
| S/H | 0.1491 | likely_benign | 0.1189 | benign | -0.884 | Destabilizing | 0.017 | N | 0.271 | neutral | None | None | None | None | N |
| S/I | 0.1052 | likely_benign | 0.0984 | benign | -0.199 | Destabilizing | 0.944 | D | 0.595 | neutral | None | None | None | None | N |
| S/K | 0.2582 | likely_benign | 0.2212 | benign | -0.41 | Destabilizing | 0.329 | N | 0.375 | neutral | None | None | None | None | N |
| S/L | 0.0716 | likely_benign | 0.0752 | benign | -0.199 | Destabilizing | 0.704 | D | 0.513 | neutral | None | None | None | None | N |
| S/M | 0.1328 | likely_benign | 0.1287 | benign | 0.014 | Stabilizing | 0.944 | D | 0.573 | neutral | None | None | None | None | N |
| S/N | 0.0824 | likely_benign | 0.0739 | benign | -0.144 | Destabilizing | 0.704 | D | 0.392 | neutral | None | None | None | None | N |
| S/P | 0.104 | likely_benign | 0.1014 | benign | -0.213 | Destabilizing | 0.784 | D | 0.585 | neutral | N | 0.48535045 | None | None | N |
| S/Q | 0.2373 | likely_benign | 0.2023 | benign | -0.389 | Destabilizing | 0.013 | N | 0.135 | neutral | None | None | None | None | N |
| S/R | 0.2309 | likely_benign | 0.1926 | benign | -0.192 | Destabilizing | 0.007 | N | 0.322 | neutral | None | None | None | None | N |
| S/T | 0.058 | likely_benign | 0.0577 | benign | -0.261 | Destabilizing | 0.642 | D | 0.376 | neutral | N | 0.396016525 | None | None | N |
| S/V | 0.1104 | likely_benign | 0.1052 | benign | -0.213 | Destabilizing | 0.828 | D | 0.57 | neutral | None | None | None | None | N |
| S/W | 0.2012 | likely_benign | 0.1919 | benign | -0.976 | Destabilizing | 0.995 | D | 0.619 | neutral | None | None | None | None | N |
| S/Y | 0.1095 | likely_benign | 0.0959 | benign | -0.684 | Destabilizing | 0.863 | D | 0.595 | neutral | N | 0.472675912 | 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.