Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35354 | 106285;106286;106287 | chr2:178530555;178530554;178530553 | chr2:179395282;179395281;179395280 |
| N2AB | 33713 | 101362;101363;101364 | chr2:178530555;178530554;178530553 | chr2:179395282;179395281;179395280 |
| N2A | 32786 | 98581;98582;98583 | chr2:178530555;178530554;178530553 | chr2:179395282;179395281;179395280 |
| N2B | 26289 | 79090;79091;79092 | chr2:178530555;178530554;178530553 | chr2:179395282;179395281;179395280 |
| Novex-1 | 26414 | 79465;79466;79467 | chr2:178530555;178530554;178530553 | chr2:179395282;179395281;179395280 |
| Novex-2 | 26481 | 79666;79667;79668 | chr2:178530555;178530554;178530553 | chr2:179395282;179395281;179395280 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/R | rs546343124  |
-0.059 | None | N | 0.129 | 0.105 | 0.0482279557977 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78211E-04 | None | 0 | None | 0 | 0 | 0 |
| Q/R | rs546343124 |
-0.059 | None | N | 0.129 | 0.105 | 0.0482279557977 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.76923E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | rs546343124 |
-0.059 | None | N | 0.129 | 0.105 | 0.0482279557977 | 1000 genomes | 5.99042E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 3E-03 | 0 | None | None | None | 0 | None |
| Q/R | rs546343124 |
-0.059 | None | N | 0.129 | 0.105 | 0.0482279557977 | gnomAD-4.0.0 | 6.40292E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.21194E-04 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1523 | likely_benign | 0.1382 | benign | -0.701 | Destabilizing | 0.007 | N | 0.32 | neutral | None | None | None | None | N |
| Q/C | 0.2171 | likely_benign | 0.2481 | benign | 0.111 | Stabilizing | None | N | 0.37 | neutral | None | None | None | None | N |
| Q/D | 0.3766 | ambiguous | 0.3185 | benign | -0.286 | Destabilizing | 0.038 | N | 0.332 | neutral | None | None | None | None | N |
| Q/E | 0.0885 | likely_benign | 0.0814 | benign | -0.227 | Destabilizing | 0.012 | N | 0.35 | neutral | N | 0.388393466 | None | None | N |
| Q/F | 0.5315 | ambiguous | 0.4951 | ambiguous | -0.62 | Destabilizing | 0.356 | N | 0.522 | neutral | None | None | None | None | N |
| Q/G | 0.1796 | likely_benign | 0.1646 | benign | -1.013 | Destabilizing | 0.016 | N | 0.423 | neutral | None | None | None | None | N |
| Q/H | 0.1599 | likely_benign | 0.1488 | benign | -0.988 | Destabilizing | 0.295 | N | 0.451 | neutral | N | 0.482690494 | None | None | N |
| Q/I | 0.3068 | likely_benign | 0.2867 | benign | 0.076 | Stabilizing | 0.072 | N | 0.603 | neutral | None | None | None | None | N |
| Q/K | 0.0784 | likely_benign | 0.0758 | benign | -0.173 | Destabilizing | None | N | 0.117 | neutral | N | 0.423354189 | None | None | N |
| Q/L | 0.1371 | likely_benign | 0.1264 | benign | 0.076 | Stabilizing | 0.012 | N | 0.421 | neutral | N | 0.417446937 | None | None | N |
| Q/M | 0.2866 | likely_benign | 0.2733 | benign | 0.667 | Stabilizing | 0.628 | D | 0.447 | neutral | None | None | None | None | N |
| Q/N | 0.2456 | likely_benign | 0.2136 | benign | -0.638 | Destabilizing | 0.038 | N | 0.336 | neutral | None | None | None | None | N |
| Q/P | 0.4484 | ambiguous | 0.3417 | ambiguous | -0.153 | Destabilizing | 0.055 | N | 0.551 | neutral | N | 0.432493747 | None | None | N |
| Q/R | 0.0794 | likely_benign | 0.0787 | benign | -0.124 | Destabilizing | None | N | 0.129 | neutral | N | 0.388068179 | None | None | N |
| Q/S | 0.1689 | likely_benign | 0.1477 | benign | -0.745 | Destabilizing | None | N | 0.107 | neutral | None | None | None | None | N |
| Q/T | 0.1509 | likely_benign | 0.1316 | benign | -0.49 | Destabilizing | 0.016 | N | 0.453 | neutral | None | None | None | None | N |
| Q/V | 0.2178 | likely_benign | 0.1965 | benign | -0.153 | Destabilizing | 0.038 | N | 0.491 | neutral | None | None | None | None | N |
| Q/W | 0.3729 | ambiguous | 0.3425 | ambiguous | -0.485 | Destabilizing | 0.864 | D | 0.499 | neutral | None | None | None | None | N |
| Q/Y | 0.3158 | likely_benign | 0.2906 | benign | -0.266 | Destabilizing | 0.356 | N | 0.521 | 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.