Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1584 | 4975;4976;4977 | chr2:178777213;178777212;178777211 | chr2:179641940;179641939;179641938 |
| N2AB | 1584 | 4975;4976;4977 | chr2:178777213;178777212;178777211 | chr2:179641940;179641939;179641938 |
| N2A | 1584 | 4975;4976;4977 | chr2:178777213;178777212;178777211 | chr2:179641940;179641939;179641938 |
| N2B | 1538 | 4837;4838;4839 | chr2:178777213;178777212;178777211 | chr2:179641940;179641939;179641938 |
| Novex-1 | 1538 | 4837;4838;4839 | chr2:178777213;178777212;178777211 | chr2:179641940;179641939;179641938 |
| Novex-2 | 1538 | 4837;4838;4839 | chr2:178777213;178777212;178777211 | chr2:179641940;179641939;179641938 |
| Novex-3 | 1584 | 4975;4976;4977 | chr2:178777213;178777212;178777211 | chr2:179641940;179641939;179641938 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs879252955  |
0.438 | 0.986 | N | 0.357 | 0.286 | 0.208000267992 | gnomAD-2.1.1 | 7.08E-06 | None | None | None | None | I | None | 8.01E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/K | rs879252955 |
0.438 | 0.986 | N | 0.357 | 0.286 | 0.208000267992 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/K | rs879252955 |
0.438 | 0.986 | N | 0.357 | 0.286 | 0.208000267992 | gnomAD-4.0.0 | 5.12256E-06 | None | None | None | None | I | None | 6.7659E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs2092326509 |
None | 0.986 | N | 0.311 | 0.151 | 0.284150004643 | 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 |
| N/S | rs2092326509 |
None | 0.986 | N | 0.311 | 0.151 | 0.284150004643 | gnomAD-4.0.0 | 2.47832E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54241E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1473 | likely_benign | 0.1225 | benign | -0.454 | Destabilizing | 0.927 | D | 0.449 | neutral | None | None | None | None | I |
| N/C | 0.321 | likely_benign | 0.2503 | benign | 0.336 | Stabilizing | 0.999 | D | 0.463 | neutral | None | None | None | None | I |
| N/D | 0.1192 | likely_benign | 0.0926 | benign | -0.945 | Destabilizing | 0.986 | D | 0.332 | neutral | N | 0.477306372 | None | None | I |
| N/E | 0.342 | ambiguous | 0.2423 | benign | -0.926 | Destabilizing | 0.99 | D | 0.361 | neutral | None | None | None | None | I |
| N/F | 0.4338 | ambiguous | 0.3359 | benign | -0.588 | Destabilizing | 0.982 | D | 0.455 | neutral | None | None | None | None | I |
| N/G | 0.3274 | likely_benign | 0.272 | benign | -0.712 | Destabilizing | 0.99 | D | 0.295 | neutral | None | None | None | None | I |
| N/H | 0.1195 | likely_benign | 0.0971 | benign | -0.816 | Destabilizing | 0.996 | D | 0.427 | neutral | N | 0.512419836 | None | None | I |
| N/I | 0.1258 | likely_benign | 0.0962 | benign | 0.167 | Stabilizing | 0.061 | N | 0.239 | neutral | N | 0.482690385 | None | None | I |
| N/K | 0.3337 | likely_benign | 0.2132 | benign | -0.219 | Destabilizing | 0.986 | D | 0.357 | neutral | N | 0.44299695 | None | None | I |
| N/L | 0.1508 | likely_benign | 0.1212 | benign | 0.167 | Stabilizing | 0.02 | N | 0.235 | neutral | None | None | None | None | I |
| N/M | 0.2497 | likely_benign | 0.2062 | benign | 0.839 | Stabilizing | 0.982 | D | 0.479 | neutral | None | None | None | None | I |
| N/P | 0.3872 | ambiguous | 0.3171 | benign | -0.012 | Destabilizing | 0.997 | D | 0.479 | neutral | None | None | None | None | I |
| N/Q | 0.3065 | likely_benign | 0.2303 | benign | -0.872 | Destabilizing | 0.997 | D | 0.397 | neutral | None | None | None | None | I |
| N/R | 0.4037 | ambiguous | 0.267 | benign | -0.139 | Destabilizing | 0.997 | D | 0.384 | neutral | None | None | None | None | I |
| N/S | 0.0741 | likely_benign | 0.0721 | benign | -0.533 | Destabilizing | 0.986 | D | 0.311 | neutral | N | 0.481961552 | None | None | I |
| N/T | 0.1141 | likely_benign | 0.0965 | benign | -0.368 | Destabilizing | 0.959 | D | 0.274 | neutral | N | 0.414225717 | None | None | I |
| N/V | 0.1226 | likely_benign | 0.1005 | benign | -0.012 | Destabilizing | 0.759 | D | 0.476 | neutral | None | None | None | None | I |
| N/W | 0.7788 | likely_pathogenic | 0.6918 | pathogenic | -0.501 | Destabilizing | 0.999 | D | 0.521 | neutral | None | None | None | None | I |
| N/Y | 0.1627 | likely_benign | 0.1253 | benign | -0.239 | Destabilizing | 0.996 | D | 0.482 | neutral | N | 0.51318875 | 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.