Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6656 | 20191;20192;20193 | chr2:178727612;178727611;178727610 | chr2:179592339;179592338;179592337 |
| N2AB | 6339 | 19240;19241;19242 | chr2:178727612;178727611;178727610 | chr2:179592339;179592338;179592337 |
| N2A | 5412 | 16459;16460;16461 | chr2:178727612;178727611;178727610 | chr2:179592339;179592338;179592337 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs761716450  |
-0.216 | 0.962 | D | 0.504 | 0.464 | 0.603223074362 | gnomAD-2.1.1 | 8.59E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.87E-05 | 0 |
| S/C | rs761716450 |
-0.216 | 0.962 | D | 0.504 | 0.464 | 0.603223074362 | gnomAD-4.0.0 | 1.38996E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.81675E-06 | 0 | 0 |
| S/F | rs761716450 |
-0.953 | 0.011 | N | 0.493 | 0.292 | 0.614227455099 | gnomAD-2.1.1 | 8.59E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.87E-05 | 0 |
| S/F | rs761716450 |
-0.953 | 0.011 | N | 0.493 | 0.292 | 0.614227455099 | gnomAD-4.0.0 | 3.47491E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.54188E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0851 | likely_benign | 0.0838 | benign | -0.722 | Destabilizing | None | N | 0.218 | neutral | N | 0.51240832 | None | None | I |
| S/C | 0.1521 | likely_benign | 0.1285 | benign | -0.311 | Destabilizing | 0.962 | D | 0.504 | neutral | D | 0.543643307 | None | None | I |
| S/D | 0.3908 | ambiguous | 0.4167 | ambiguous | -0.204 | Destabilizing | 0.004 | N | 0.239 | neutral | None | None | None | None | I |
| S/E | 0.4619 | ambiguous | 0.4783 | ambiguous | -0.243 | Destabilizing | 0.264 | N | 0.413 | neutral | None | None | None | None | I |
| S/F | 0.1445 | likely_benign | 0.1382 | benign | -0.987 | Destabilizing | 0.011 | N | 0.493 | neutral | N | 0.520423717 | None | None | I |
| S/G | 0.1388 | likely_benign | 0.1393 | benign | -0.936 | Destabilizing | 0.322 | N | 0.416 | neutral | None | None | None | None | I |
| S/H | 0.2672 | likely_benign | 0.2899 | benign | -1.383 | Destabilizing | 0.99 | D | 0.518 | neutral | None | None | None | None | I |
| S/I | 0.1342 | likely_benign | 0.1213 | benign | -0.263 | Destabilizing | 0.699 | D | 0.603 | neutral | None | None | None | None | I |
| S/K | 0.5043 | ambiguous | 0.5232 | ambiguous | -0.776 | Destabilizing | 0.059 | N | 0.217 | neutral | None | None | None | None | I |
| S/L | 0.1056 | likely_benign | 0.0953 | benign | -0.263 | Destabilizing | 0.49 | N | 0.479 | neutral | None | None | None | None | I |
| S/M | 0.1941 | likely_benign | 0.1858 | benign | 0.102 | Stabilizing | 0.971 | D | 0.519 | neutral | None | None | None | None | I |
| S/N | 0.1512 | likely_benign | 0.1517 | benign | -0.546 | Destabilizing | 0.127 | N | 0.419 | neutral | None | None | None | None | I |
| S/P | 0.7855 | likely_pathogenic | 0.812 | pathogenic | -0.383 | Destabilizing | 0.655 | D | 0.564 | neutral | D | 0.543136328 | None | None | I |
| S/Q | 0.411 | ambiguous | 0.4369 | ambiguous | -0.74 | Destabilizing | 0.823 | D | 0.446 | neutral | None | None | None | None | I |
| S/R | 0.3826 | ambiguous | 0.4046 | ambiguous | -0.569 | Destabilizing | 0.006 | N | 0.315 | neutral | None | None | None | None | I |
| S/T | 0.0707 | likely_benign | 0.0687 | benign | -0.6 | Destabilizing | 0.043 | N | 0.416 | neutral | N | 0.48365164 | None | None | I |
| S/V | 0.1517 | likely_benign | 0.1453 | benign | -0.383 | Destabilizing | 0.465 | N | 0.523 | neutral | None | None | None | None | I |
| S/W | 0.3192 | likely_benign | 0.3353 | benign | -0.961 | Destabilizing | 0.997 | D | 0.578 | neutral | None | None | None | None | I |
| S/Y | 0.1479 | likely_benign | 0.1391 | benign | -0.73 | Destabilizing | 0.86 | D | 0.599 | neutral | D | 0.532033512 | 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.