Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7215 | 21868;21869;21870 | chr2:178723457;178723456;178723455 | chr2:179588184;179588183;179588182 |
| N2AB | 6898 | 20917;20918;20919 | chr2:178723457;178723456;178723455 | chr2:179588184;179588183;179588182 |
| N2A | 5971 | 18136;18137;18138 | chr2:178723457;178723456;178723455 | chr2:179588184;179588183;179588182 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | None | None | 1.0 | D | 0.659 | 0.576 | 0.620251207734 | gnomAD-4.0.0 | 6.84525E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65761E-05 |
| A/S | rs767445301  |
None | 0.999 | N | 0.594 | 0.466 | 0.463328977263 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/S | rs767445301 |
None | 0.999 | N | 0.594 | 0.466 | 0.463328977263 | gnomAD-4.0.0 | 2.47991E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39127E-06 | 0 | 0 |
| A/T | rs767445301 |
-0.13 | 0.999 | D | 0.602 | 0.465 | 0.504113619024 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 2.91E-05 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 1.66778E-04 |
| A/T | rs767445301 |
-0.13 | 0.999 | D | 0.602 | 0.465 | 0.504113619024 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| A/T | rs767445301 |
-0.13 | 0.999 | D | 0.602 | 0.465 | 0.504113619024 | gnomAD-4.0.0 | 8.67968E-06 | None | None | None | None | I | None | 0 | 1.66978E-05 | None | 0 | 0 | None | 0 | 0 | 8.47818E-06 | 3.29765E-05 | 0 |
| A/V | rs759533714 |
-0.019 | 0.767 | N | 0.399 | 0.242 | 0.412328234245 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | I | None | 0 | 2.91E-05 | None | 0 | 1.6803E-04 | None | 0 | None | 0 | 8.91E-06 | 0 |
| A/V | rs759533714 |
-0.019 | 0.767 | N | 0.399 | 0.242 | 0.412328234245 | gnomAD-4.0.0 | 1.43342E-05 | None | None | None | None | I | None | 0 | 2.28969E-05 | None | 0 | 1.38935E-04 | None | 0 | 0 | 8.5803E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6438 | likely_pathogenic | 0.637 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| A/D | 0.6439 | likely_pathogenic | 0.6146 | pathogenic | -0.601 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | D | 0.548607284 | None | None | I |
| A/E | 0.5863 | likely_pathogenic | 0.5382 | ambiguous | -0.757 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | I |
| A/F | 0.4274 | ambiguous | 0.3779 | ambiguous | -0.934 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| A/G | 0.2449 | likely_benign | 0.2342 | benign | -0.185 | Destabilizing | 0.999 | D | 0.603 | neutral | N | 0.497368711 | None | None | I |
| A/H | 0.7037 | likely_pathogenic | 0.6656 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| A/I | 0.3521 | ambiguous | 0.306 | benign | -0.399 | Destabilizing | 0.994 | D | 0.604 | neutral | None | None | None | None | I |
| A/K | 0.7956 | likely_pathogenic | 0.7518 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | I |
| A/L | 0.3696 | ambiguous | 0.3359 | benign | -0.399 | Destabilizing | 0.994 | D | 0.531 | neutral | None | None | None | None | I |
| A/M | 0.3622 | ambiguous | 0.3318 | benign | -0.521 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | I |
| A/N | 0.5783 | likely_pathogenic | 0.5555 | ambiguous | -0.176 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| A/P | 0.9039 | likely_pathogenic | 0.8888 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.659 | neutral | D | 0.548607284 | None | None | I |
| A/Q | 0.6562 | likely_pathogenic | 0.6084 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | I |
| A/R | 0.6558 | likely_pathogenic | 0.6068 | pathogenic | -0.061 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | I |
| A/S | 0.1412 | likely_benign | 0.144 | benign | -0.338 | Destabilizing | 0.999 | D | 0.594 | neutral | N | 0.510028463 | None | None | I |
| A/T | 0.1673 | likely_benign | 0.1576 | benign | -0.428 | Destabilizing | 0.999 | D | 0.602 | neutral | D | 0.52259931 | None | None | I |
| A/V | 0.1467 | likely_benign | 0.1285 | benign | -0.306 | Destabilizing | 0.767 | D | 0.399 | neutral | N | 0.471336295 | None | None | I |
| A/W | 0.87 | likely_pathogenic | 0.8416 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | I |
| A/Y | 0.6772 | likely_pathogenic | 0.6346 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | 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.