Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15609 | 47050;47051;47052 | chr2:178618725;178618724;178618723 | chr2:179483452;179483451;179483450 |
| N2AB | 13968 | 42127;42128;42129 | chr2:178618725;178618724;178618723 | chr2:179483452;179483451;179483450 |
| N2A | 13041 | 39346;39347;39348 | chr2:178618725;178618724;178618723 | chr2:179483452;179483451;179483450 |
| N2B | 6544 | 19855;19856;19857 | chr2:178618725;178618724;178618723 | chr2:179483452;179483451;179483450 |
| Novex-1 | 6669 | 20230;20231;20232 | chr2:178618725;178618724;178618723 | chr2:179483452;179483451;179483450 |
| Novex-2 | 6736 | 20431;20432;20433 | chr2:178618725;178618724;178618723 | chr2:179483452;179483451;179483450 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs2057780227  |
None | 0.975 | N | 0.371 | 0.367 | 0.475430695062 | gnomAD-4.0.0 | 1.59519E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86453E-06 | 0 | 0 |
| S/P | None | None | None | N | 0.167 | 0.137 | 0.110078149338 | gnomAD-4.0.0 | 1.59522E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.78057E-05 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0635 | likely_benign | 0.075 | benign | -0.287 | Destabilizing | 0.041 | N | 0.221 | neutral | N | 0.494708491 | None | None | N |
| S/C | 0.1084 | likely_benign | 0.1318 | benign | -0.352 | Destabilizing | 0.975 | D | 0.371 | neutral | N | 0.498257988 | None | None | N |
| S/D | 0.1401 | likely_benign | 0.1754 | benign | 0.449 | Stabilizing | 0.388 | N | 0.305 | neutral | None | None | None | None | N |
| S/E | 0.1985 | likely_benign | 0.2476 | benign | 0.381 | Stabilizing | 0.388 | N | 0.303 | neutral | None | None | None | None | N |
| S/F | 0.146 | likely_benign | 0.2014 | benign | -0.916 | Destabilizing | 0.912 | D | 0.39 | neutral | N | 0.498257988 | None | None | N |
| S/G | 0.0865 | likely_benign | 0.092 | benign | -0.404 | Destabilizing | 0.207 | N | 0.343 | neutral | None | None | None | None | N |
| S/H | 0.1586 | likely_benign | 0.2126 | benign | -0.761 | Destabilizing | 0.932 | D | 0.371 | neutral | None | None | None | None | N |
| S/I | 0.1118 | likely_benign | 0.1424 | benign | -0.111 | Destabilizing | 0.818 | D | 0.376 | neutral | None | None | None | None | N |
| S/K | 0.2577 | likely_benign | 0.3365 | benign | -0.271 | Destabilizing | 0.388 | N | 0.305 | neutral | None | None | None | None | N |
| S/L | 0.077 | likely_benign | 0.0993 | benign | -0.111 | Destabilizing | 0.388 | N | 0.414 | neutral | None | None | None | None | N |
| S/M | 0.1526 | likely_benign | 0.1896 | benign | -0.16 | Destabilizing | 0.932 | D | 0.371 | neutral | None | None | None | None | N |
| S/N | 0.0847 | likely_benign | 0.0935 | benign | -0.146 | Destabilizing | 0.563 | D | 0.307 | neutral | None | None | None | None | N |
| S/P | 0.0532 | likely_benign | 0.063 | benign | -0.141 | Destabilizing | None | N | 0.167 | neutral | N | 0.387284072 | None | None | N |
| S/Q | 0.1804 | likely_benign | 0.2396 | benign | -0.272 | Destabilizing | 0.818 | D | 0.311 | neutral | None | None | None | None | N |
| S/R | 0.2523 | likely_benign | 0.3286 | benign | -0.125 | Destabilizing | 0.818 | D | 0.354 | neutral | None | None | None | None | N |
| S/T | 0.0728 | likely_benign | 0.0822 | benign | -0.222 | Destabilizing | 0.165 | N | 0.351 | neutral | N | 0.494842265 | None | None | N |
| S/V | 0.1151 | likely_benign | 0.1469 | benign | -0.141 | Destabilizing | 0.388 | N | 0.398 | neutral | None | None | None | None | N |
| S/W | 0.2473 | likely_benign | 0.3134 | benign | -0.986 | Destabilizing | 0.981 | D | 0.444 | neutral | None | None | None | None | N |
| S/Y | 0.1333 | likely_benign | 0.174 | benign | -0.651 | Destabilizing | 0.912 | D | 0.389 | neutral | N | 0.497951158 | 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.