Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25213 | 75862;75863;75864 | chr2:178570495;178570494;178570493 | chr2:179435222;179435221;179435220 |
| N2AB | 23572 | 70939;70940;70941 | chr2:178570495;178570494;178570493 | chr2:179435222;179435221;179435220 |
| N2A | 22645 | 68158;68159;68160 | chr2:178570495;178570494;178570493 | chr2:179435222;179435221;179435220 |
| N2B | 16148 | 48667;48668;48669 | chr2:178570495;178570494;178570493 | chr2:179435222;179435221;179435220 |
| Novex-1 | 16273 | 49042;49043;49044 | chr2:178570495;178570494;178570493 | chr2:179435222;179435221;179435220 |
| Novex-2 | 16340 | 49243;49244;49245 | chr2:178570495;178570494;178570493 | chr2:179435222;179435221;179435220 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1707778463  |
None | None | N | 0.071 | 0.052 | 0.191931220699 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs1707778463 |
None | None | N | 0.071 | 0.052 | 0.191931220699 | gnomAD-4.0.0 | 6.57687E-06 | None | None | None | None | N | None | 0 | 6.55652E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | rs72646901 |
-0.653 | 0.171 | N | 0.587 | 0.036 | 0.600746198033 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| V/F | rs72646901 |
-0.653 | 0.171 | N | 0.587 | 0.036 | 0.600746198033 | gnomAD-4.0.0 | 6.15967E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19672E-06 | 0 | 1.65761E-05 |
| V/I | rs72646901 |
None | None | N | 0.129 | 0.095 | 0.307332253619 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | rs72646901 |
None | None | N | 0.129 | 0.095 | 0.307332253619 | gnomAD-4.0.0 | 1.23979E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.6955E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0857 | likely_benign | 0.0857 | benign | -0.609 | Destabilizing | None | N | 0.071 | neutral | N | 0.454064751 | None | None | N |
| V/C | 0.4149 | ambiguous | 0.4284 | ambiguous | -0.768 | Destabilizing | 0.356 | N | 0.487 | neutral | None | None | None | None | N |
| V/D | 0.1561 | likely_benign | 0.1492 | benign | -0.296 | Destabilizing | 0.012 | N | 0.351 | neutral | N | 0.47282387 | None | None | N |
| V/E | 0.1252 | likely_benign | 0.1292 | benign | -0.379 | Destabilizing | None | N | 0.265 | neutral | None | None | None | None | N |
| V/F | 0.1175 | likely_benign | 0.1119 | benign | -0.639 | Destabilizing | 0.171 | N | 0.587 | neutral | N | 0.498837035 | None | None | N |
| V/G | 0.1285 | likely_benign | 0.1226 | benign | -0.781 | Destabilizing | 0.012 | N | 0.313 | neutral | N | 0.491582989 | None | None | N |
| V/H | 0.241 | likely_benign | 0.2453 | benign | -0.277 | Destabilizing | 0.356 | N | 0.485 | neutral | None | None | None | None | N |
| V/I | 0.0714 | likely_benign | 0.0704 | benign | -0.292 | Destabilizing | None | N | 0.129 | neutral | N | 0.470207639 | None | None | N |
| V/K | 0.1571 | likely_benign | 0.159 | benign | -0.623 | Destabilizing | None | N | 0.281 | neutral | None | None | None | None | N |
| V/L | 0.0924 | likely_benign | 0.0963 | benign | -0.292 | Destabilizing | 0.002 | N | 0.264 | neutral | N | 0.465532538 | None | None | N |
| V/M | 0.0934 | likely_benign | 0.0972 | benign | -0.423 | Destabilizing | 0.214 | N | 0.381 | neutral | None | None | None | None | N |
| V/N | 0.1131 | likely_benign | 0.1122 | benign | -0.44 | Destabilizing | 0.072 | N | 0.489 | neutral | None | None | None | None | N |
| V/P | 0.601 | likely_pathogenic | 0.5735 | pathogenic | -0.362 | Destabilizing | 0.072 | N | 0.501 | neutral | None | None | None | None | N |
| V/Q | 0.1309 | likely_benign | 0.137 | benign | -0.631 | Destabilizing | 0.038 | N | 0.501 | neutral | None | None | None | None | N |
| V/R | 0.1526 | likely_benign | 0.1547 | benign | -0.119 | Destabilizing | 0.038 | N | 0.489 | neutral | None | None | None | None | N |
| V/S | 0.0915 | likely_benign | 0.0881 | benign | -0.842 | Destabilizing | 0.001 | N | 0.261 | neutral | None | None | None | None | N |
| V/T | 0.089 | likely_benign | 0.0885 | benign | -0.818 | Destabilizing | 0.016 | N | 0.293 | neutral | None | None | None | None | N |
| V/W | 0.5941 | likely_pathogenic | 0.5679 | pathogenic | -0.738 | Destabilizing | 0.864 | D | 0.497 | neutral | None | None | None | None | N |
| V/Y | 0.2877 | likely_benign | 0.2817 | benign | -0.45 | Destabilizing | 0.356 | N | 0.581 | 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.