Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30177 | 90754;90755;90756 | chr2:178552371;178552370;178552369 | chr2:179417098;179417097;179417096 |
| N2AB | 28536 | 85831;85832;85833 | chr2:178552371;178552370;178552369 | chr2:179417098;179417097;179417096 |
| N2A | 27609 | 83050;83051;83052 | chr2:178552371;178552370;178552369 | chr2:179417098;179417097;179417096 |
| N2B | 21112 | 63559;63560;63561 | chr2:178552371;178552370;178552369 | chr2:179417098;179417097;179417096 |
| Novex-1 | 21237 | 63934;63935;63936 | chr2:178552371;178552370;178552369 | chr2:179417098;179417097;179417096 |
| Novex-2 | 21304 | 64135;64136;64137 | chr2:178552371;178552370;178552369 | chr2:179417098;179417097;179417096 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/C | rs772875882  |
-0.168 | 0.258 | N | 0.353 | 0.051 | 0.195762928549 | gnomAD-2.1.1 | 4.28E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.67E-05 | None | 0 | None | 0 | 0 | 0 |
| F/C | rs772875882 |
-0.168 | 0.258 | N | 0.353 | 0.051 | 0.195762928549 | gnomAD-4.0.0 | 8.2216E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.39821E-04 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | rs748918212 |
-0.646 | None | N | 0.093 | 0.048 | 0.126345400529 | gnomAD-2.1.1 | 1.28E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.8E-05 | 0 |
| F/L | rs748918212 |
-0.646 | None | N | 0.093 | 0.048 | 0.126345400529 | gnomAD-4.0.0 | 5.55105E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.61615E-05 | None | 3.80243E-05 | 0 | 2.72532E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.0827 | likely_benign | 0.0943 | benign | -1.883 | Destabilizing | 0.001 | N | 0.285 | neutral | None | None | None | None | N |
| F/C | 0.0794 | likely_benign | 0.1182 | benign | -0.671 | Destabilizing | 0.258 | N | 0.353 | neutral | N | 0.457208552 | None | None | N |
| F/D | 0.1143 | likely_benign | 0.1247 | benign | -0.42 | Destabilizing | 0.002 | N | 0.288 | neutral | None | None | None | None | N |
| F/E | 0.1511 | likely_benign | 0.1832 | benign | -0.379 | Destabilizing | 0.001 | N | 0.277 | neutral | None | None | None | None | N |
| F/G | 0.1893 | likely_benign | 0.2081 | benign | -2.179 | Highly Destabilizing | 0.001 | N | 0.277 | neutral | None | None | None | None | N |
| F/H | 0.074 | likely_benign | 0.1109 | benign | -0.547 | Destabilizing | None | N | 0.17 | neutral | None | None | None | None | N |
| F/I | 0.0726 | likely_benign | 0.0846 | benign | -1.024 | Destabilizing | 0.003 | N | 0.213 | neutral | N | 0.400661835 | None | None | N |
| F/K | 0.1618 | likely_benign | 0.1945 | benign | -0.834 | Destabilizing | None | N | 0.169 | neutral | None | None | None | None | N |
| F/L | 0.3195 | likely_benign | 0.4308 | ambiguous | -1.024 | Destabilizing | None | N | 0.093 | neutral | N | 0.387385894 | None | None | N |
| F/M | 0.1365 | likely_benign | 0.1549 | benign | -0.651 | Destabilizing | 0.011 | N | 0.303 | neutral | None | None | None | None | N |
| F/N | 0.0521 | likely_benign | 0.0605 | benign | -0.77 | Destabilizing | None | N | 0.194 | neutral | None | None | None | None | N |
| F/P | 0.6337 | likely_pathogenic | 0.7311 | pathogenic | -1.3 | Destabilizing | 0.018 | N | 0.357 | neutral | None | None | None | None | N |
| F/Q | 0.0992 | likely_benign | 0.143 | benign | -0.872 | Destabilizing | None | N | 0.177 | neutral | None | None | None | None | N |
| F/R | 0.1451 | likely_benign | 0.1921 | benign | -0.186 | Destabilizing | None | N | 0.175 | neutral | None | None | None | None | N |
| F/S | 0.0673 | likely_benign | 0.0746 | benign | -1.519 | Destabilizing | 0.001 | N | 0.266 | neutral | N | 0.369434851 | None | None | N |
| F/T | 0.0656 | likely_benign | 0.0727 | benign | -1.385 | Destabilizing | 0.002 | N | 0.258 | neutral | None | None | None | None | N |
| F/V | 0.0714 | likely_benign | 0.0808 | benign | -1.3 | Destabilizing | 0.001 | N | 0.262 | neutral | N | 0.380459921 | None | None | N |
| F/W | 0.2068 | likely_benign | 0.2306 | benign | -0.512 | Destabilizing | 0.132 | N | 0.269 | neutral | None | None | None | None | N |
| F/Y | 0.0512 | likely_benign | 0.0552 | benign | -0.642 | Destabilizing | None | N | 0.095 | neutral | N | 0.380459921 | 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.