Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27111 | 81556;81557;81558 | chr2:178564801;178564800;178564799 | chr2:179429528;179429527;179429526 |
| N2AB | 25470 | 76633;76634;76635 | chr2:178564801;178564800;178564799 | chr2:179429528;179429527;179429526 |
| N2A | 24543 | 73852;73853;73854 | chr2:178564801;178564800;178564799 | chr2:179429528;179429527;179429526 |
| N2B | 18046 | 54361;54362;54363 | chr2:178564801;178564800;178564799 | chr2:179429528;179429527;179429526 |
| Novex-1 | 18171 | 54736;54737;54738 | chr2:178564801;178564800;178564799 | chr2:179429528;179429527;179429526 |
| Novex-2 | 18238 | 54937;54938;54939 | chr2:178564801;178564800;178564799 | chr2:179429528;179429527;179429526 |
| 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/H | None | None | 0.655 | N | 0.677 | 0.129 | 0.281780670237 | gnomAD-4.0.0 | 1.5945E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86293E-06 | 0 | 0 |
| Q/P | rs776426627  |
-0.489 | 0.77 | N | 0.759 | 0.263 | 0.29132392195 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.68E-05 | 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 | 0.3016 | likely_benign | 0.3212 | benign | -0.476 | Destabilizing | 0.114 | N | 0.548 | neutral | None | None | None | None | N |
| Q/C | 0.3556 | ambiguous | 0.3823 | ambiguous | 0.077 | Stabilizing | 0.983 | D | 0.762 | deleterious | None | None | None | None | N |
| Q/D | 0.8795 | likely_pathogenic | 0.8939 | pathogenic | -2.118 | Highly Destabilizing | 0.418 | N | 0.536 | neutral | None | None | None | None | N |
| Q/E | 0.1974 | likely_benign | 0.2003 | benign | -1.756 | Destabilizing | 0.089 | N | 0.297 | neutral | N | 0.469244847 | None | None | N |
| Q/F | 0.6319 | likely_pathogenic | 0.6475 | pathogenic | -0.174 | Destabilizing | 0.264 | N | 0.775 | deleterious | None | None | None | None | N |
| Q/G | 0.3862 | ambiguous | 0.4186 | ambiguous | -0.928 | Destabilizing | 0.228 | N | 0.697 | prob.neutral | None | None | None | None | N |
| Q/H | 0.2579 | likely_benign | 0.2767 | benign | -0.379 | Destabilizing | 0.655 | D | 0.677 | prob.neutral | N | 0.425704714 | None | None | N |
| Q/I | 0.4591 | ambiguous | 0.446 | ambiguous | 0.791 | Stabilizing | 0.418 | N | 0.801 | deleterious | None | None | None | None | N |
| Q/K | 0.0975 | likely_benign | 0.0945 | benign | 0.419 | Stabilizing | 0.047 | N | 0.317 | neutral | N | 0.345915778 | None | None | N |
| Q/L | 0.1671 | likely_benign | 0.1585 | benign | 0.791 | Stabilizing | 0.101 | N | 0.677 | prob.neutral | N | 0.429646309 | None | None | N |
| Q/M | 0.299 | likely_benign | 0.2848 | benign | 0.622 | Stabilizing | 0.94 | D | 0.669 | neutral | None | None | None | None | N |
| Q/N | 0.5557 | ambiguous | 0.6071 | pathogenic | -0.737 | Destabilizing | 0.228 | N | 0.486 | neutral | None | None | None | None | N |
| Q/P | 0.9368 | likely_pathogenic | 0.9217 | pathogenic | 0.39 | Stabilizing | 0.77 | D | 0.759 | deleterious | N | 0.469244847 | None | None | N |
| Q/R | 0.0981 | likely_benign | 0.0952 | benign | 0.005 | Stabilizing | None | N | 0.121 | neutral | N | 0.297508543 | None | None | N |
| Q/S | 0.3861 | ambiguous | 0.4135 | ambiguous | -0.947 | Destabilizing | 0.228 | N | 0.462 | neutral | None | None | None | None | N |
| Q/T | 0.3538 | ambiguous | 0.3511 | ambiguous | -0.402 | Destabilizing | 0.228 | N | 0.647 | neutral | None | None | None | None | N |
| Q/V | 0.3071 | likely_benign | 0.2965 | benign | 0.39 | Stabilizing | 0.418 | N | 0.736 | prob.delet. | None | None | None | None | N |
| Q/W | 0.593 | likely_pathogenic | 0.5706 | pathogenic | -0.338 | Destabilizing | 0.951 | D | 0.739 | prob.delet. | None | None | None | None | N |
| Q/Y | 0.3832 | ambiguous | 0.4028 | ambiguous | 0.205 | Stabilizing | 0.001 | N | 0.436 | 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.