Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3891 | 11896;11897;11898 | chr2:178741562;178741561;178741560 | chr2:179606289;179606288;179606287 |
| N2AB | 3574 | 10945;10946;10947 | chr2:178741562;178741561;178741560 | chr2:179606289;179606288;179606287 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3528 | 10807;10808;10809 | chr2:178741562;178741561;178741560 | chr2:179606289;179606288;179606287 |
| Novex-1 | 3653 | 11182;11183;11184 | chr2:178741562;178741561;178741560 | chr2:179606289;179606288;179606287 |
| Novex-2 | 3720 | 11383;11384;11385 | chr2:178741562;178741561;178741560 | chr2:179606289;179606288;179606287 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs148164929  |
-0.071 | 0.029 | N | 0.698 | 0.114 | None | gnomAD-2.1.1 | 5.10911E-04 | None | None | None | None | N | None | 1.90208E-03 | 9.33839E-04 | None | 1.74115E-03 | 0 | None | 0 | None | 4E-05 | 3.05121E-04 | 8.4317E-04 |
| T/I | rs148164929 |
-0.071 | 0.029 | N | 0.698 | 0.114 | None | gnomAD-3.1.2 | 8.48126E-04 | None | None | None | None | N | None | 1.97962E-03 | 1.24574E-03 | 0 | 1.72911E-03 | 0 | None | 0 | 0 | 3.08705E-04 | 0 | 4.78469E-04 |
| T/I | rs148164929 |
-0.071 | 0.029 | N | 0.698 | 0.114 | None | 1000 genomes | 1.19808E-03 | None | None | None | None | N | None | 1.5E-03 | 2.9E-03 | None | None | 0 | 2E-03 | None | None | None | 0 | None |
| T/I | rs148164929 |
-0.071 | 0.029 | N | 0.698 | 0.114 | None | gnomAD-4.0.0 | 2.91238E-04 | None | None | None | None | N | None | 1.85299E-03 | 9.3352E-04 | None | 1.58773E-03 | 0 | None | 0 | 1.15512E-03 | 1.55957E-04 | 0 | 5.9219E-04 |
| T/K | None | None | 0.029 | N | 0.697 | 0.127 | None | gnomAD-4.0.0 | 2.05257E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69835E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1222 | likely_benign | 0.1255 | benign | -1.282 | Destabilizing | 0.005 | N | 0.428 | neutral | N | 0.5188291 | None | None | N |
| T/C | 0.4916 | ambiguous | 0.5047 | ambiguous | -0.864 | Destabilizing | 0.001 | N | 0.576 | neutral | None | None | None | None | N |
| T/D | 0.6109 | likely_pathogenic | 0.6031 | pathogenic | -1.478 | Destabilizing | 0.072 | N | 0.704 | prob.neutral | None | None | None | None | N |
| T/E | 0.4168 | ambiguous | 0.3983 | ambiguous | -1.255 | Destabilizing | 0.072 | N | 0.696 | prob.neutral | None | None | None | None | N |
| T/F | 0.3055 | likely_benign | 0.3034 | benign | -0.967 | Destabilizing | 0.214 | N | 0.699 | prob.neutral | None | None | None | None | N |
| T/G | 0.4476 | ambiguous | 0.4511 | ambiguous | -1.699 | Destabilizing | 0.038 | N | 0.675 | prob.neutral | None | None | None | None | N |
| T/H | 0.2898 | likely_benign | 0.2878 | benign | -1.722 | Destabilizing | 0.676 | D | 0.685 | prob.neutral | None | None | None | None | N |
| T/I | 0.1825 | likely_benign | 0.1892 | benign | -0.176 | Destabilizing | 0.029 | N | 0.698 | prob.neutral | N | 0.484678078 | None | None | N |
| T/K | 0.2494 | likely_benign | 0.2247 | benign | -0.319 | Destabilizing | 0.029 | N | 0.697 | prob.neutral | N | 0.461751244 | None | None | N |
| T/L | 0.1421 | likely_benign | 0.1424 | benign | -0.176 | Destabilizing | None | N | 0.447 | neutral | None | None | None | None | N |
| T/M | 0.1158 | likely_benign | 0.1129 | benign | -0.217 | Destabilizing | 0.002 | N | 0.593 | neutral | None | None | None | None | N |
| T/N | 0.2059 | likely_benign | 0.2058 | benign | -1.077 | Destabilizing | 0.038 | N | 0.653 | neutral | None | None | None | None | N |
| T/P | 0.7796 | likely_pathogenic | 0.7824 | pathogenic | -0.516 | Destabilizing | 0.295 | N | 0.746 | deleterious | D | 0.663206579 | None | None | N |
| T/Q | 0.262 | likely_benign | 0.2539 | benign | -0.832 | Destabilizing | 0.214 | N | 0.742 | deleterious | None | None | None | None | N |
| T/R | 0.1501 | likely_benign | 0.1424 | benign | -0.601 | Destabilizing | 0.171 | N | 0.746 | deleterious | N | 0.448357827 | None | None | N |
| T/S | 0.1415 | likely_benign | 0.1467 | benign | -1.339 | Destabilizing | None | N | 0.253 | neutral | N | 0.456667781 | None | None | N |
| T/V | 0.1845 | likely_benign | 0.1887 | benign | -0.516 | Destabilizing | 0.016 | N | 0.566 | neutral | None | None | None | None | N |
| T/W | 0.7281 | likely_pathogenic | 0.7123 | pathogenic | -1.09 | Destabilizing | 0.864 | D | 0.7 | prob.neutral | None | None | None | None | N |
| T/Y | 0.3533 | ambiguous | 0.3358 | benign | -0.708 | Destabilizing | 0.356 | N | 0.691 | prob.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.