Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2754 | 8485;8486;8487 | chr2:178770532;178770531;178770530 | chr2:179635259;179635258;179635257 |
| N2AB | 2754 | 8485;8486;8487 | chr2:178770532;178770531;178770530 | chr2:179635259;179635258;179635257 |
| N2A | 2754 | 8485;8486;8487 | chr2:178770532;178770531;178770530 | chr2:179635259;179635258;179635257 |
| N2B | 2708 | 8347;8348;8349 | chr2:178770532;178770531;178770530 | chr2:179635259;179635258;179635257 |
| Novex-1 | 2708 | 8347;8348;8349 | chr2:178770532;178770531;178770530 | chr2:179635259;179635258;179635257 |
| Novex-2 | 2708 | 8347;8348;8349 | chr2:178770532;178770531;178770530 | chr2:179635259;179635258;179635257 |
| Novex-3 | 2754 | 8485;8486;8487 | chr2:178770532;178770531;178770530 | chr2:179635259;179635258;179635257 |
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/G | rs770875496  |
-1.046 | 0.006 | N | 0.318 | 0.114 | 0.265929055128 | gnomAD-2.1.1 | 2.79E-05 | None | None | None | None | N | None | 0 | 1.73541E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.63132E-04 |
| A/G | rs770875496 |
-1.046 | 0.006 | N | 0.318 | 0.114 | 0.265929055128 | gnomAD-4.0.0 | 7.52474E-06 | None | None | None | None | N | None | 0 | 1.78891E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.96738E-05 |
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 | 0.3234 | likely_benign | 0.3877 | ambiguous | -1.283 | Destabilizing | 0.245 | N | 0.453 | neutral | None | None | None | None | N |
| A/D | 0.0727 | likely_benign | 0.0766 | benign | -1.142 | Destabilizing | None | N | 0.201 | neutral | N | 0.40732347 | None | None | N |
| A/E | 0.0729 | likely_benign | 0.076 | benign | -1.178 | Destabilizing | None | N | 0.146 | neutral | None | None | None | None | N |
| A/F | 0.205 | likely_benign | 0.2352 | benign | -1.197 | Destabilizing | 0.245 | N | 0.507 | neutral | None | None | None | None | N |
| A/G | 0.1186 | likely_benign | 0.1326 | benign | -1.19 | Destabilizing | 0.006 | N | 0.318 | neutral | N | 0.407716875 | None | None | N |
| A/H | 0.2024 | likely_benign | 0.2268 | benign | -1.232 | Destabilizing | 0.245 | N | 0.463 | neutral | None | None | None | None | N |
| A/I | 0.1277 | likely_benign | 0.1388 | benign | -0.503 | Destabilizing | 0.022 | N | 0.438 | neutral | None | None | None | None | N |
| A/K | 0.1915 | likely_benign | 0.2082 | benign | -1.061 | Destabilizing | 0.004 | N | 0.345 | neutral | None | None | None | None | N |
| A/L | 0.1091 | likely_benign | 0.12 | benign | -0.503 | Destabilizing | 0.009 | N | 0.385 | neutral | None | None | None | None | N |
| A/M | 0.1472 | likely_benign | 0.1501 | benign | -0.537 | Destabilizing | 0.245 | N | 0.427 | neutral | None | None | None | None | N |
| A/N | 0.0856 | likely_benign | 0.1043 | benign | -0.878 | Destabilizing | 0.009 | N | 0.36 | neutral | None | None | None | None | N |
| A/P | 0.552 | ambiguous | 0.7158 | pathogenic | -0.619 | Destabilizing | 0.065 | N | 0.445 | neutral | N | 0.479640412 | None | None | N |
| A/Q | 0.1329 | likely_benign | 0.1364 | benign | -1.074 | Destabilizing | 0.001 | N | 0.206 | neutral | None | None | None | None | N |
| A/R | 0.1872 | likely_benign | 0.2036 | benign | -0.752 | Destabilizing | 0.009 | N | 0.412 | neutral | None | None | None | None | N |
| A/S | 0.0736 | likely_benign | 0.0768 | benign | -1.293 | Destabilizing | 0.003 | N | 0.354 | neutral | N | 0.402052776 | None | None | N |
| A/T | 0.0681 | likely_benign | 0.0698 | benign | -1.232 | Destabilizing | None | N | 0.129 | neutral | N | 0.38045981 | None | None | N |
| A/V | 0.085 | likely_benign | 0.0903 | benign | -0.619 | Destabilizing | 0.007 | N | 0.32 | neutral | N | 0.433329598 | None | None | N |
| A/W | 0.5217 | ambiguous | 0.5602 | ambiguous | -1.44 | Destabilizing | 0.788 | D | 0.485 | neutral | None | None | None | None | N |
| A/Y | 0.236 | likely_benign | 0.2731 | benign | -1.043 | Destabilizing | 0.245 | N | 0.516 | 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.