Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5830 | 17713;17714;17715 | chr2:178731177;178731176;178731175 | chr2:179595904;179595903;179595902 |
| N2AB | 5513 | 16762;16763;16764 | chr2:178731177;178731176;178731175 | chr2:179595904;179595903;179595902 |
| N2A | 4586 | 13981;13982;13983 | chr2:178731177;178731176;178731175 | chr2:179595904;179595903;179595902 |
| 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/L | None | None | 0.201 | N | 0.326 | 0.213 | 0.353548585375 | gnomAD-4.0.0 | 6.84391E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99674E-07 | 0 | 0 |
| V/M | rs374097424  |
-0.265 | 0.963 | N | 0.368 | 0.301 | None | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | N | None | 1.65371E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.13E-05 | 0 |
| V/M | rs374097424 |
-0.265 | 0.963 | N | 0.368 | 0.301 | None | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/M | rs374097424 |
-0.265 | 0.963 | N | 0.368 | 0.301 | None | gnomAD-4.0.0 | 7.43837E-06 | None | None | None | None | N | None | 1.20231E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54343E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1083 | likely_benign | 0.1105 | benign | -0.34 | Destabilizing | 0.002 | N | 0.071 | neutral | N | 0.467237197 | None | None | N |
| V/C | 0.6575 | likely_pathogenic | 0.7002 | pathogenic | -0.711 | Destabilizing | 0.977 | D | 0.385 | neutral | None | None | None | None | N |
| V/D | 0.1576 | likely_benign | 0.1916 | benign | -0.085 | Destabilizing | 0.617 | D | 0.402 | neutral | None | None | None | None | N |
| V/E | 0.1371 | likely_benign | 0.1487 | benign | -0.191 | Destabilizing | 0.201 | N | 0.34 | neutral | N | 0.409535688 | None | None | N |
| V/F | 0.1209 | likely_benign | 0.1389 | benign | -0.565 | Destabilizing | 0.92 | D | 0.408 | neutral | None | None | None | None | N |
| V/G | 0.1255 | likely_benign | 0.1421 | benign | -0.454 | Destabilizing | 0.379 | N | 0.373 | neutral | N | 0.483822802 | None | None | N |
| V/H | 0.3892 | ambiguous | 0.4224 | ambiguous | -0.045 | Destabilizing | 0.92 | D | 0.405 | neutral | None | None | None | None | N |
| V/I | 0.0759 | likely_benign | 0.078 | benign | -0.189 | Destabilizing | 0.617 | D | 0.299 | neutral | None | None | None | None | N |
| V/K | 0.1688 | likely_benign | 0.181 | benign | -0.357 | Destabilizing | 0.009 | N | 0.183 | neutral | None | None | None | None | N |
| V/L | 0.1284 | likely_benign | 0.1358 | benign | -0.189 | Destabilizing | 0.201 | N | 0.326 | neutral | N | 0.489922056 | None | None | N |
| V/M | 0.1076 | likely_benign | 0.1097 | benign | -0.415 | Destabilizing | 0.963 | D | 0.368 | neutral | N | 0.490268772 | None | None | N |
| V/N | 0.146 | likely_benign | 0.1659 | benign | -0.157 | Destabilizing | 0.92 | D | 0.413 | neutral | None | None | None | None | N |
| V/P | 0.3251 | likely_benign | 0.3458 | ambiguous | -0.206 | Destabilizing | 0.92 | D | 0.392 | neutral | None | None | None | None | N |
| V/Q | 0.1849 | likely_benign | 0.1983 | benign | -0.351 | Destabilizing | 0.059 | N | 0.253 | neutral | None | None | None | None | N |
| V/R | 0.1777 | likely_benign | 0.1907 | benign | 0.077 | Stabilizing | 0.447 | N | 0.398 | neutral | None | None | None | None | N |
| V/S | 0.1213 | likely_benign | 0.1378 | benign | -0.52 | Destabilizing | 0.447 | N | 0.355 | neutral | None | None | None | None | N |
| V/T | 0.1204 | likely_benign | 0.1315 | benign | -0.522 | Destabilizing | 0.617 | D | 0.232 | neutral | None | None | None | None | N |
| V/W | 0.7062 | likely_pathogenic | 0.7321 | pathogenic | -0.651 | Destabilizing | 0.992 | D | 0.447 | neutral | None | None | None | None | N |
| V/Y | 0.4251 | ambiguous | 0.4581 | ambiguous | -0.351 | Destabilizing | 0.972 | D | 0.407 | 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.