Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29893 | 89902;89903;89904 | chr2:178553223;178553222;178553221 | chr2:179417950;179417949;179417948 |
| N2AB | 28252 | 84979;84980;84981 | chr2:178553223;178553222;178553221 | chr2:179417950;179417949;179417948 |
| N2A | 27325 | 82198;82199;82200 | chr2:178553223;178553222;178553221 | chr2:179417950;179417949;179417948 |
| N2B | 20828 | 62707;62708;62709 | chr2:178553223;178553222;178553221 | chr2:179417950;179417949;179417948 |
| Novex-1 | 20953 | 63082;63083;63084 | chr2:178553223;178553222;178553221 | chr2:179417950;179417949;179417948 |
| Novex-2 | 21020 | 63283;63284;63285 | chr2:178553223;178553222;178553221 | chr2:179417950;179417949;179417948 |
| 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/A | rs1382237741  |
None | 0.052 | N | 0.254 | 0.123 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/A | rs1382237741 |
None | 0.052 | N | 0.254 | 0.123 | None | gnomAD-4.0.0 | 3.09866E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39032E-06 | 0 | 1.60102E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1135 | likely_benign | 0.1026 | benign | -0.519 | Destabilizing | 0.052 | N | 0.254 | neutral | N | 0.480728806 | None | None | N |
| S/C | 0.1364 | likely_benign | 0.128 | benign | -0.354 | Destabilizing | 0.935 | D | 0.433 | neutral | None | None | None | None | N |
| S/D | 0.5859 | likely_pathogenic | 0.5284 | ambiguous | 0.378 | Stabilizing | 0.262 | N | 0.349 | neutral | None | None | None | None | N |
| S/E | 0.6893 | likely_pathogenic | 0.6536 | pathogenic | 0.306 | Stabilizing | 0.149 | N | 0.283 | neutral | None | None | None | None | N |
| S/F | 0.2131 | likely_benign | 0.1772 | benign | -0.989 | Destabilizing | 0.081 | N | 0.474 | neutral | None | None | None | None | N |
| S/G | 0.1394 | likely_benign | 0.1315 | benign | -0.665 | Destabilizing | 0.128 | N | 0.263 | neutral | None | None | None | None | N |
| S/H | 0.3627 | ambiguous | 0.35 | ambiguous | -1.134 | Destabilizing | 0.38 | N | 0.441 | neutral | None | None | None | None | N |
| S/I | 0.222 | likely_benign | 0.1945 | benign | -0.259 | Destabilizing | 0.081 | N | 0.499 | neutral | None | None | None | None | N |
| S/K | 0.7253 | likely_pathogenic | 0.7088 | pathogenic | -0.499 | Destabilizing | 0.035 | N | 0.279 | neutral | None | None | None | None | N |
| S/L | 0.1413 | likely_benign | 0.1243 | benign | -0.259 | Destabilizing | None | N | 0.296 | neutral | N | 0.485416521 | None | None | N |
| S/M | 0.2191 | likely_benign | 0.2077 | benign | -0.071 | Destabilizing | 0.235 | N | 0.443 | neutral | None | None | None | None | N |
| S/N | 0.2184 | likely_benign | 0.197 | benign | -0.273 | Destabilizing | 0.262 | N | 0.301 | neutral | None | None | None | None | N |
| S/P | 0.8435 | likely_pathogenic | 0.8095 | pathogenic | -0.315 | Destabilizing | 0.741 | D | 0.437 | neutral | N | 0.494063802 | None | None | N |
| S/Q | 0.5684 | likely_pathogenic | 0.5642 | pathogenic | -0.472 | Destabilizing | 0.149 | N | 0.369 | neutral | None | None | None | None | N |
| S/R | 0.6455 | likely_pathogenic | 0.622 | pathogenic | -0.342 | Destabilizing | None | N | 0.203 | neutral | None | None | None | None | N |
| S/T | 0.0732 | likely_benign | 0.0726 | benign | -0.396 | Destabilizing | 0.052 | N | 0.278 | neutral | N | 0.458561785 | None | None | N |
| S/V | 0.223 | likely_benign | 0.203 | benign | -0.315 | Destabilizing | 0.081 | N | 0.479 | neutral | None | None | None | None | N |
| S/W | 0.4236 | ambiguous | 0.3834 | ambiguous | -0.969 | Destabilizing | 0.824 | D | 0.509 | neutral | None | None | None | None | N |
| S/Y | 0.1814 | likely_benign | 0.1537 | benign | -0.706 | Destabilizing | 0.002 | N | 0.362 | 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.