Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5264 | 16015;16016;16017 | chr2:178733503;178733502;178733501 | chr2:179598230;179598229;179598228 |
| N2AB | 4947 | 15064;15065;15066 | chr2:178733503;178733502;178733501 | chr2:179598230;179598229;179598228 |
| N2A | 4020 | 12283;12284;12285 | chr2:178733503;178733502;178733501 | chr2:179598230;179598229;179598228 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | None | None | None | N | 0.096 | 0.054 | 0.235664433957 | gnomAD-4.0.0 | 1.59992E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.04099E-05 |
| I/T | rs768858900  |
-1.107 | None | N | 0.197 | 0.093 | 0.377976839388 | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.59E-05 | None | 0 | 0 | 0 |
| I/T | rs768858900 |
-1.107 | None | N | 0.197 | 0.093 | 0.377976839388 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| I/T | rs768858900 |
-1.107 | None | N | 0.197 | 0.093 | 0.377976839388 | gnomAD-4.0.0 | 5.58835E-06 | None | None | None | None | N | None | 0 | 1.67269E-05 | None | 0 | 0 | None | 0 | 0 | 2.54765E-06 | 5.50237E-05 | 0 |
| I/V | None | None | None | N | 0.111 | 0.061 | 0.184867976434 | gnomAD-4.0.0 | 1.59992E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87778E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1129 | likely_benign | 0.162 | benign | -0.935 | Destabilizing | 0.016 | N | 0.276 | neutral | None | None | None | None | N |
| I/C | 0.5399 | ambiguous | 0.6839 | pathogenic | -0.693 | Destabilizing | 0.676 | D | 0.311 | neutral | None | None | None | None | N |
| I/D | 0.4006 | ambiguous | 0.5529 | ambiguous | -0.527 | Destabilizing | 0.214 | N | 0.407 | neutral | None | None | None | None | N |
| I/E | 0.2546 | likely_benign | 0.3461 | ambiguous | -0.607 | Destabilizing | 0.072 | N | 0.4 | neutral | None | None | None | None | N |
| I/F | 0.1271 | likely_benign | 0.1737 | benign | -0.8 | Destabilizing | 0.171 | N | 0.265 | neutral | D | 0.536168119 | None | None | N |
| I/G | 0.3242 | likely_benign | 0.4748 | ambiguous | -1.136 | Destabilizing | 0.072 | N | 0.403 | neutral | None | None | None | None | N |
| I/H | 0.3023 | likely_benign | 0.4421 | ambiguous | -0.345 | Destabilizing | 0.864 | D | 0.323 | neutral | None | None | None | None | N |
| I/K | 0.1724 | likely_benign | 0.2451 | benign | -0.642 | Destabilizing | 0.001 | N | 0.235 | neutral | None | None | None | None | N |
| I/L | 0.0778 | likely_benign | 0.095 | benign | -0.513 | Destabilizing | None | N | 0.096 | neutral | N | 0.435294528 | None | None | N |
| I/M | 0.0722 | likely_benign | 0.0908 | benign | -0.459 | Destabilizing | 0.171 | N | 0.302 | neutral | N | 0.471255887 | None | None | N |
| I/N | 0.1585 | likely_benign | 0.2323 | benign | -0.434 | Destabilizing | 0.171 | N | 0.393 | neutral | D | 0.536354774 | None | None | N |
| I/P | 0.5042 | ambiguous | 0.7388 | pathogenic | -0.62 | Destabilizing | 0.356 | N | 0.393 | neutral | None | None | None | None | N |
| I/Q | 0.2008 | likely_benign | 0.2805 | benign | -0.681 | Destabilizing | 0.214 | N | 0.387 | neutral | None | None | None | None | N |
| I/R | 0.1241 | likely_benign | 0.1852 | benign | 0.003 | Stabilizing | 0.12 | N | 0.405 | neutral | None | None | None | None | N |
| I/S | 0.1275 | likely_benign | 0.1863 | benign | -0.897 | Destabilizing | 0.029 | N | 0.327 | neutral | N | 0.436619648 | None | None | N |
| I/T | 0.0564 | likely_benign | 0.075 | benign | -0.87 | Destabilizing | None | N | 0.197 | neutral | N | 0.446260011 | None | None | N |
| I/V | 0.0622 | likely_benign | 0.0647 | benign | -0.62 | Destabilizing | None | N | 0.111 | neutral | N | 0.420881619 | None | None | N |
| I/W | 0.5359 | ambiguous | 0.7113 | pathogenic | -0.809 | Destabilizing | 0.864 | D | 0.347 | neutral | None | None | None | None | N |
| I/Y | 0.3808 | ambiguous | 0.4929 | ambiguous | -0.587 | Destabilizing | 0.356 | N | 0.363 | 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.