Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24941 | 75046;75047;75048 | chr2:178571311;178571310;178571309 | chr2:179436038;179436037;179436036 |
| N2AB | 23300 | 70123;70124;70125 | chr2:178571311;178571310;178571309 | chr2:179436038;179436037;179436036 |
| N2A | 22373 | 67342;67343;67344 | chr2:178571311;178571310;178571309 | chr2:179436038;179436037;179436036 |
| N2B | 15876 | 47851;47852;47853 | chr2:178571311;178571310;178571309 | chr2:179436038;179436037;179436036 |
| Novex-1 | 16001 | 48226;48227;48228 | chr2:178571311;178571310;178571309 | chr2:179436038;179436037;179436036 |
| Novex-2 | 16068 | 48427;48428;48429 | chr2:178571311;178571310;178571309 | chr2:179436038;179436037;179436036 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs1222996660  |
None | 0.001 | N | 0.168 | 0.076 | 0.319686207203 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs1222996660 |
None | 0.001 | N | 0.168 | 0.076 | 0.319686207203 | gnomAD-4.0.0 | 4.95861E-06 | None | None | None | None | I | None | 0 | 6.67111E-05 | None | 0 | 0 | None | 0 | 0 | 3.39094E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1327 | likely_benign | 0.1498 | benign | -1.301 | Destabilizing | 0.209 | N | 0.385 | neutral | None | None | None | None | I |
| I/C | 0.5136 | ambiguous | 0.5595 | ambiguous | -0.797 | Destabilizing | 0.965 | D | 0.393 | neutral | None | None | None | None | I |
| I/D | 0.6091 | likely_pathogenic | 0.6641 | pathogenic | -0.813 | Destabilizing | 0.818 | D | 0.427 | neutral | None | None | None | None | I |
| I/E | 0.4996 | ambiguous | 0.5405 | ambiguous | -0.867 | Destabilizing | 0.561 | D | 0.416 | neutral | None | None | None | None | I |
| I/F | 0.1223 | likely_benign | 0.1322 | benign | -1.004 | Destabilizing | 0.491 | N | 0.316 | neutral | N | 0.488232045 | None | None | I |
| I/G | 0.4274 | ambiguous | 0.4615 | ambiguous | -1.556 | Destabilizing | 0.561 | D | 0.415 | neutral | None | None | None | None | I |
| I/H | 0.3814 | ambiguous | 0.4302 | ambiguous | -0.739 | Destabilizing | 0.991 | D | 0.369 | neutral | None | None | None | None | I |
| I/K | 0.3247 | likely_benign | 0.3552 | ambiguous | -0.874 | Destabilizing | 0.561 | D | 0.417 | neutral | None | None | None | None | I |
| I/L | 0.0685 | likely_benign | 0.0711 | benign | -0.71 | Destabilizing | None | N | 0.07 | neutral | N | 0.408329674 | None | None | I |
| I/M | 0.0771 | likely_benign | 0.0784 | benign | -0.518 | Destabilizing | 0.772 | D | 0.399 | neutral | N | 0.520577744 | None | None | I |
| I/N | 0.1957 | likely_benign | 0.2376 | benign | -0.617 | Destabilizing | 0.772 | D | 0.417 | neutral | N | 0.46772148 | None | None | I |
| I/P | 0.7404 | likely_pathogenic | 0.7608 | pathogenic | -0.874 | Destabilizing | 0.901 | D | 0.421 | neutral | None | None | None | None | I |
| I/Q | 0.331 | likely_benign | 0.3579 | ambiguous | -0.872 | Destabilizing | 0.901 | D | 0.398 | neutral | None | None | None | None | I |
| I/R | 0.2271 | likely_benign | 0.2472 | benign | -0.207 | Destabilizing | 0.818 | D | 0.415 | neutral | None | None | None | None | I |
| I/S | 0.1453 | likely_benign | 0.1679 | benign | -1.155 | Destabilizing | 0.326 | N | 0.341 | neutral | N | 0.487425176 | None | None | I |
| I/T | 0.058 | likely_benign | 0.0628 | benign | -1.101 | Destabilizing | 0.001 | N | 0.168 | neutral | N | 0.409116321 | None | None | I |
| I/V | 0.0721 | likely_benign | 0.0724 | benign | -0.874 | Destabilizing | 0.036 | N | 0.211 | neutral | N | 0.486790458 | None | None | I |
| I/W | 0.6149 | likely_pathogenic | 0.6357 | pathogenic | -1.006 | Destabilizing | 0.991 | D | 0.381 | neutral | None | None | None | None | I |
| I/Y | 0.4161 | ambiguous | 0.4618 | ambiguous | -0.802 | Destabilizing | 0.901 | D | 0.429 | neutral | None | None | 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.