Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24857 | 74794;74795;74796 | chr2:178571563;178571562;178571561 | chr2:179436290;179436289;179436288 |
| N2AB | 23216 | 69871;69872;69873 | chr2:178571563;178571562;178571561 | chr2:179436290;179436289;179436288 |
| N2A | 22289 | 67090;67091;67092 | chr2:178571563;178571562;178571561 | chr2:179436290;179436289;179436288 |
| N2B | 15792 | 47599;47600;47601 | chr2:178571563;178571562;178571561 | chr2:179436290;179436289;179436288 |
| Novex-1 | 15917 | 47974;47975;47976 | chr2:178571563;178571562;178571561 | chr2:179436290;179436289;179436288 |
| Novex-2 | 15984 | 48175;48176;48177 | chr2:178571563;178571562;178571561 | chr2:179436290;179436289;179436288 |
| 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/K | rs766557412  |
0.058 | 0.324 | N | 0.302 | 0.172 | 0.119812018005 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.30864E-04 | None | 0 | 0 | 0 |
| Q/K | rs766557412 |
0.058 | 0.324 | N | 0.302 | 0.172 | 0.119812018005 | gnomAD-4.0.0 | 6.15993E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99601E-07 | 9.27708E-05 | 0 |
| Q/L | None | None | 0.324 | N | 0.346 | 0.205 | 0.445711490874 | gnomAD-4.0.0 | 6.8443E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99591E-07 | 0 | 0 |
| Q/R | rs763178333 |
0.181 | 0.324 | N | 0.3 | 0.118 | 0.12205267543 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| Q/R | rs763178333 |
0.181 | 0.324 | N | 0.3 | 0.118 | 0.12205267543 | gnomAD-4.0.0 | 1.36886E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31927E-05 | 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 | 0.2197 | likely_benign | 0.2351 | benign | -0.463 | Destabilizing | 0.116 | N | 0.317 | neutral | None | None | None | None | N |
| Q/C | 0.5427 | ambiguous | 0.5579 | ambiguous | -0.005 | Destabilizing | 0.981 | D | 0.379 | neutral | None | None | None | None | N |
| Q/D | 0.307 | likely_benign | 0.3284 | benign | -0.046 | Destabilizing | 0.241 | N | 0.276 | neutral | None | None | None | None | N |
| Q/E | 0.0925 | likely_benign | 0.093 | benign | 0.014 | Stabilizing | 0.09 | N | 0.307 | neutral | N | 0.467476765 | None | None | N |
| Q/F | 0.6635 | likely_pathogenic | 0.6735 | pathogenic | -0.238 | Destabilizing | 0.69 | D | 0.359 | neutral | None | None | None | None | N |
| Q/G | 0.3074 | likely_benign | 0.3303 | benign | -0.769 | Destabilizing | 0.001 | N | 0.179 | neutral | None | None | None | None | N |
| Q/H | 0.1587 | likely_benign | 0.155 | benign | -0.461 | Destabilizing | 0.003 | N | 0.144 | neutral | N | 0.497644957 | None | None | N |
| Q/I | 0.3054 | likely_benign | 0.3262 | benign | 0.293 | Stabilizing | 0.818 | D | 0.379 | neutral | None | None | None | None | N |
| Q/K | 0.1709 | likely_benign | 0.1626 | benign | -0.21 | Destabilizing | 0.324 | N | 0.302 | neutral | N | 0.463145594 | None | None | N |
| Q/L | 0.1483 | likely_benign | 0.162 | benign | 0.293 | Stabilizing | 0.324 | N | 0.346 | neutral | N | 0.506013724 | None | None | N |
| Q/M | 0.2556 | likely_benign | 0.2759 | benign | 0.469 | Stabilizing | 0.932 | D | 0.337 | neutral | None | None | None | None | N |
| Q/N | 0.1533 | likely_benign | 0.1807 | benign | -0.695 | Destabilizing | 0.002 | N | 0.119 | neutral | None | None | None | None | N |
| Q/P | 0.7256 | likely_pathogenic | 0.7468 | pathogenic | 0.072 | Stabilizing | 0.773 | D | 0.37 | neutral | N | 0.493311381 | None | None | N |
| Q/R | 0.2061 | likely_benign | 0.1973 | benign | -0.076 | Destabilizing | 0.324 | N | 0.3 | neutral | N | 0.485099734 | None | None | N |
| Q/S | 0.1832 | likely_benign | 0.2012 | benign | -0.769 | Destabilizing | 0.116 | N | 0.281 | neutral | None | None | None | None | N |
| Q/T | 0.1637 | likely_benign | 0.1719 | benign | -0.524 | Destabilizing | 0.388 | N | 0.326 | neutral | None | None | None | None | N |
| Q/V | 0.1795 | likely_benign | 0.1919 | benign | 0.072 | Stabilizing | 0.818 | D | 0.356 | neutral | None | None | None | None | N |
| Q/W | 0.6418 | likely_pathogenic | 0.6364 | pathogenic | -0.136 | Destabilizing | 0.981 | D | 0.394 | neutral | None | None | None | None | N |
| Q/Y | 0.408 | ambiguous | 0.4159 | ambiguous | 0.075 | Stabilizing | 0.527 | D | 0.369 | 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.