Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2757 | 8494;8495;8496 | chr2:178770523;178770522;178770521 | chr2:179635250;179635249;179635248 |
| N2AB | 2757 | 8494;8495;8496 | chr2:178770523;178770522;178770521 | chr2:179635250;179635249;179635248 |
| N2A | 2757 | 8494;8495;8496 | chr2:178770523;178770522;178770521 | chr2:179635250;179635249;179635248 |
| N2B | 2711 | 8356;8357;8358 | chr2:178770523;178770522;178770521 | chr2:179635250;179635249;179635248 |
| Novex-1 | 2711 | 8356;8357;8358 | chr2:178770523;178770522;178770521 | chr2:179635250;179635249;179635248 |
| Novex-2 | 2711 | 8356;8357;8358 | chr2:178770523;178770522;178770521 | chr2:179635250;179635249;179635248 |
| Novex-3 | 2757 | 8494;8495;8496 | chr2:178770523;178770522;178770521 | chr2:179635250;179635249;179635248 |
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/G | rs1267823803  |
-1.144 | 0.117 | D | 0.587 | 0.517 | 0.838888471741 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| V/G | rs1267823803 |
-1.144 | 0.117 | D | 0.587 | 0.517 | 0.838888471741 | gnomAD-4.0.0 | 1.59049E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02151E-05 |
| V/I | rs769822096 |
-0.164 | None | N | 0.231 | 0.111 | None | gnomAD-2.1.1 | 1.99E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.41E-05 | 0 |
| V/I | rs769822096 |
-0.164 | None | N | 0.231 | 0.111 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| V/I | rs769822096 |
-0.164 | None | N | 0.231 | 0.111 | None | gnomAD-4.0.0 | 2.16853E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88134E-05 | 0 | 1.60031E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1282 | likely_benign | 0.1544 | benign | -0.554 | Destabilizing | 0.027 | N | 0.427 | neutral | N | 0.510231113 | None | None | N |
| V/C | 0.639 | likely_pathogenic | 0.7354 | pathogenic | -0.716 | Destabilizing | 0.935 | D | 0.545 | neutral | None | None | None | None | N |
| V/D | 0.237 | likely_benign | 0.3365 | benign | 0.416 | Stabilizing | 0.317 | N | 0.624 | neutral | N | 0.513844628 | None | None | N |
| V/E | 0.1335 | likely_benign | 0.175 | benign | 0.353 | Stabilizing | 0.149 | N | 0.605 | neutral | None | None | None | None | N |
| V/F | 0.1634 | likely_benign | 0.2173 | benign | -0.519 | Destabilizing | 0.317 | N | 0.559 | neutral | D | 0.603944268 | None | None | N |
| V/G | 0.1764 | likely_benign | 0.237 | benign | -0.739 | Destabilizing | 0.117 | N | 0.587 | neutral | D | 0.604875594 | None | None | N |
| V/H | 0.4144 | ambiguous | 0.5179 | ambiguous | -0.212 | Destabilizing | 0.935 | D | 0.652 | neutral | None | None | None | None | N |
| V/I | 0.0812 | likely_benign | 0.0868 | benign | -0.201 | Destabilizing | None | N | 0.231 | neutral | N | 0.504073255 | None | None | N |
| V/K | 0.1752 | likely_benign | 0.2371 | benign | -0.292 | Destabilizing | 0.149 | N | 0.601 | neutral | None | None | None | None | N |
| V/L | 0.175 | likely_benign | 0.2277 | benign | -0.201 | Destabilizing | 0.009 | N | 0.432 | neutral | D | 0.603944268 | None | None | N |
| V/M | 0.1048 | likely_benign | 0.1317 | benign | -0.37 | Destabilizing | 0.38 | N | 0.554 | neutral | None | None | None | None | N |
| V/N | 0.1752 | likely_benign | 0.2398 | benign | -0.12 | Destabilizing | 0.38 | N | 0.639 | neutral | None | None | None | None | N |
| V/P | 0.5871 | likely_pathogenic | 0.7402 | pathogenic | -0.282 | Destabilizing | 0.555 | D | 0.651 | neutral | None | None | None | None | N |
| V/Q | 0.1691 | likely_benign | 0.2137 | benign | -0.247 | Destabilizing | 0.555 | D | 0.651 | neutral | None | None | None | None | N |
| V/R | 0.1713 | likely_benign | 0.2227 | benign | 0.074 | Stabilizing | 0.555 | D | 0.667 | neutral | None | None | None | None | N |
| V/S | 0.1331 | likely_benign | 0.17 | benign | -0.656 | Destabilizing | 0.003 | N | 0.43 | neutral | None | None | None | None | N |
| V/T | 0.1273 | likely_benign | 0.1472 | benign | -0.6 | Destabilizing | 0.081 | N | 0.461 | neutral | None | None | None | None | N |
| V/W | 0.7309 | likely_pathogenic | 0.8368 | pathogenic | -0.6 | Destabilizing | 0.935 | D | 0.691 | prob.neutral | None | None | None | None | N |
| V/Y | 0.4518 | ambiguous | 0.5782 | pathogenic | -0.297 | Destabilizing | 0.555 | D | 0.559 | 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.