Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6116 | 18571;18572;18573 | chr2:178729907;178729906;178729905 | chr2:179594634;179594633;179594632 |
| N2AB | 5799 | 17620;17621;17622 | chr2:178729907;178729906;178729905 | chr2:179594634;179594633;179594632 |
| N2A | 4872 | 14839;14840;14841 | chr2:178729907;178729906;178729905 | chr2:179594634;179594633;179594632 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs2154307658  |
None | 0.008 | D | 0.187 | 0.126 | 0.534860934425 | gnomAD-4.0.0 | 1.36889E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79918E-06 | 0 | 0 |
| V/M | rs772718770 |
-0.381 | 0.349 | D | 0.429 | 0.151 | None | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | I | None | 4.14E-05 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 7.83E-06 | 0 |
| V/M | rs772718770 |
-0.381 | 0.349 | D | 0.429 | 0.151 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/M | rs772718770 |
-0.381 | 0.349 | D | 0.429 | 0.151 | None | gnomAD-4.0.0 | 7.69164E-06 | None | None | None | None | I | None | 5.07597E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39383E-06 | 2.68111E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1347 | likely_benign | 0.1672 | benign | -0.958 | Destabilizing | 0.008 | N | 0.187 | neutral | D | 0.535502417 | None | None | I |
| V/C | 0.7108 | likely_pathogenic | 0.7146 | pathogenic | -0.819 | Destabilizing | 0.989 | D | 0.487 | neutral | None | None | None | None | I |
| V/D | 0.2253 | likely_benign | 0.2549 | benign | -0.698 | Destabilizing | 0.961 | D | 0.623 | neutral | None | None | None | None | I |
| V/E | 0.2012 | likely_benign | 0.2094 | benign | -0.706 | Destabilizing | 0.901 | D | 0.563 | neutral | D | 0.53457691 | None | None | I |
| V/F | 0.1176 | likely_benign | 0.1283 | benign | -0.648 | Destabilizing | 0.923 | D | 0.465 | neutral | None | None | None | None | I |
| V/G | 0.1864 | likely_benign | 0.2174 | benign | -1.226 | Destabilizing | 0.82 | D | 0.511 | neutral | N | 0.499116685 | None | None | I |
| V/H | 0.401 | ambiguous | 0.4198 | ambiguous | -0.626 | Destabilizing | 0.996 | D | 0.639 | neutral | None | None | None | None | I |
| V/I | 0.0778 | likely_benign | 0.0789 | benign | -0.34 | Destabilizing | 0.011 | N | 0.233 | neutral | None | None | None | None | I |
| V/K | 0.3215 | likely_benign | 0.3286 | benign | -0.951 | Destabilizing | 0.923 | D | 0.529 | neutral | None | None | None | None | I |
| V/L | 0.1145 | likely_benign | 0.1263 | benign | -0.34 | Destabilizing | 0.156 | N | 0.405 | neutral | N | 0.512204269 | None | None | I |
| V/M | 0.1312 | likely_benign | 0.1383 | benign | -0.456 | Destabilizing | 0.349 | N | 0.429 | neutral | D | 0.533464976 | None | None | I |
| V/N | 0.1904 | likely_benign | 0.2257 | benign | -0.826 | Destabilizing | 0.961 | D | 0.633 | neutral | None | None | None | None | I |
| V/P | 0.3721 | ambiguous | 0.4509 | ambiguous | -0.51 | Destabilizing | 0.961 | D | 0.584 | neutral | None | None | None | None | I |
| V/Q | 0.2449 | likely_benign | 0.257 | benign | -0.95 | Destabilizing | 0.961 | D | 0.592 | neutral | None | None | None | None | I |
| V/R | 0.2711 | likely_benign | 0.2848 | benign | -0.457 | Destabilizing | 0.961 | D | 0.623 | neutral | None | None | None | None | I |
| V/S | 0.1417 | likely_benign | 0.1674 | benign | -1.29 | Destabilizing | 0.633 | D | 0.452 | neutral | None | None | None | None | I |
| V/T | 0.1545 | likely_benign | 0.1667 | benign | -1.186 | Destabilizing | 0.775 | D | 0.397 | neutral | None | None | None | None | I |
| V/W | 0.6575 | likely_pathogenic | 0.6717 | pathogenic | -0.818 | Destabilizing | 0.996 | D | 0.71 | prob.delet. | None | None | None | None | I |
| V/Y | 0.3853 | ambiguous | 0.4004 | ambiguous | -0.523 | Destabilizing | 0.961 | D | 0.465 | neutral | None | None | None | None | I |
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.