Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8317 | 25174;25175;25176 | chr2:178718057;178718056;178718055 | chr2:179582784;179582783;179582782 |
| N2AB | 8000 | 24223;24224;24225 | chr2:178718057;178718056;178718055 | chr2:179582784;179582783;179582782 |
| N2A | 7073 | 21442;21443;21444 | chr2:178718057;178718056;178718055 | chr2:179582784;179582783;179582782 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/I | rs1278554973  |
0.219 | 1.0 | N | 0.769 | 0.509 | 0.746569793032 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| N/I | rs1278554973 |
0.219 | 1.0 | N | 0.769 | 0.509 | 0.746569793032 | gnomAD-4.0.0 | 4.10542E-06 | None | None | None | None | N | None | 2.989E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49755E-06 | 0 | 0 |
| N/K | rs370154022 |
0.091 | 0.999 | N | 0.59 | 0.374 | 0.0716867268079 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 2.58331E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/K | rs370154022 |
0.091 | 0.999 | N | 0.59 | 0.374 | 0.0716867268079 | gnomAD-3.1.2 | 7.89E-05 | None | None | None | None | N | None | 2.89645E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/K | rs370154022 |
0.091 | 0.999 | N | 0.59 | 0.374 | 0.0716867268079 | gnomAD-4.0.0 | 1.11553E-05 | None | None | None | None | N | None | 2.13658E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69532E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.5805 | likely_pathogenic | 0.6645 | pathogenic | -0.801 | Destabilizing | 0.91 | D | 0.648 | neutral | None | None | None | None | N |
| N/C | 0.6462 | likely_pathogenic | 0.7391 | pathogenic | -0.002 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| N/D | 0.2478 | likely_benign | 0.2671 | benign | -0.351 | Destabilizing | 0.069 | N | 0.278 | neutral | N | 0.502027348 | None | None | N |
| N/E | 0.7377 | likely_pathogenic | 0.7952 | pathogenic | -0.216 | Destabilizing | 0.981 | D | 0.539 | neutral | None | None | None | None | N |
| N/F | 0.871 | likely_pathogenic | 0.9181 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| N/G | 0.342 | ambiguous | 0.3598 | ambiguous | -1.17 | Destabilizing | 0.451 | N | 0.259 | neutral | None | None | None | None | N |
| N/H | 0.1768 | likely_benign | 0.2178 | benign | -0.781 | Destabilizing | 1.0 | D | 0.649 | neutral | D | 0.527733869 | None | None | N |
| N/I | 0.8024 | likely_pathogenic | 0.8864 | pathogenic | 0.149 | Stabilizing | 1.0 | D | 0.769 | deleterious | N | 0.504324606 | None | None | N |
| N/K | 0.518 | ambiguous | 0.5894 | pathogenic | -0.156 | Destabilizing | 0.999 | D | 0.59 | neutral | N | 0.513052418 | None | None | N |
| N/L | 0.6776 | likely_pathogenic | 0.7746 | pathogenic | 0.149 | Stabilizing | 0.999 | D | 0.755 | deleterious | None | None | None | None | N |
| N/M | 0.7312 | likely_pathogenic | 0.8114 | pathogenic | 0.403 | Stabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| N/P | 0.952 | likely_pathogenic | 0.9696 | pathogenic | -0.137 | Destabilizing | 0.999 | D | 0.759 | deleterious | None | None | None | None | N |
| N/Q | 0.5448 | ambiguous | 0.6107 | pathogenic | -0.688 | Destabilizing | 0.999 | D | 0.644 | neutral | None | None | None | None | N |
| N/R | 0.5093 | ambiguous | 0.5909 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| N/S | 0.1364 | likely_benign | 0.1492 | benign | -0.894 | Destabilizing | 0.96 | D | 0.525 | neutral | N | 0.500507195 | None | None | N |
| N/T | 0.4255 | ambiguous | 0.5016 | ambiguous | -0.551 | Destabilizing | 0.987 | D | 0.589 | neutral | D | 0.531560821 | None | None | N |
| N/V | 0.7954 | likely_pathogenic | 0.8766 | pathogenic | -0.137 | Destabilizing | 0.996 | D | 0.761 | deleterious | None | None | None | None | N |
| N/W | 0.9356 | likely_pathogenic | 0.9597 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| N/Y | 0.3943 | ambiguous | 0.4976 | ambiguous | -0.015 | Destabilizing | 1.0 | D | 0.756 | deleterious | D | 0.539759017 | 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.