Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26330 | 79213;79214;79215 | chr2:178567144;178567143;178567142 | chr2:179431871;179431870;179431869 |
| N2AB | 24689 | 74290;74291;74292 | chr2:178567144;178567143;178567142 | chr2:179431871;179431870;179431869 |
| N2A | 23762 | 71509;71510;71511 | chr2:178567144;178567143;178567142 | chr2:179431871;179431870;179431869 |
| N2B | 17265 | 52018;52019;52020 | chr2:178567144;178567143;178567142 | chr2:179431871;179431870;179431869 |
| Novex-1 | 17390 | 52393;52394;52395 | chr2:178567144;178567143;178567142 | chr2:179431871;179431870;179431869 |
| Novex-2 | 17457 | 52594;52595;52596 | chr2:178567144;178567143;178567142 | chr2:179431871;179431870;179431869 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs1188453832  |
-0.311 | 0.892 | N | 0.325 | 0.26 | 0.203808441222 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| S/G | rs1188453832 |
-0.311 | 0.892 | N | 0.325 | 0.26 | 0.203808441222 | gnomAD-4.0.0 | 4.10594E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.7975E-05 | 1.65695E-05 |
| S/N | rs1427996263 |
0.097 | 0.892 | N | 0.344 | 0.199 | 0.173771789658 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 1.57E-05 | 0 |
| S/N | rs1427996263 |
0.097 | 0.892 | N | 0.344 | 0.199 | 0.173771789658 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs1427996263 |
0.097 | 0.892 | N | 0.344 | 0.199 | 0.173771789658 | gnomAD-4.0.0 | 5.5783E-06 | None | None | None | None | N | None | 1.33565E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08638E-06 | 2.19597E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.4882 | ambiguous | 0.4518 | ambiguous | -0.174 | Destabilizing | 0.693 | D | 0.383 | neutral | None | None | None | None | N |
| S/C | 0.7648 | likely_pathogenic | 0.7489 | pathogenic | -0.421 | Destabilizing | 0.999 | D | 0.483 | neutral | N | 0.505895454 | None | None | N |
| S/D | 0.98 | likely_pathogenic | 0.9737 | pathogenic | 0.055 | Stabilizing | 0.916 | D | 0.325 | neutral | None | None | None | None | N |
| S/E | 0.9858 | likely_pathogenic | 0.9829 | pathogenic | -0.052 | Destabilizing | 0.845 | D | 0.322 | neutral | None | None | None | None | N |
| S/F | 0.9626 | likely_pathogenic | 0.961 | pathogenic | -0.887 | Destabilizing | 0.996 | D | 0.547 | neutral | None | None | None | None | N |
| S/G | 0.6073 | likely_pathogenic | 0.5311 | ambiguous | -0.225 | Destabilizing | 0.892 | D | 0.325 | neutral | N | 0.487462461 | None | None | N |
| S/H | 0.9548 | likely_pathogenic | 0.9419 | pathogenic | -0.556 | Destabilizing | 0.997 | D | 0.433 | neutral | None | None | None | None | N |
| S/I | 0.952 | likely_pathogenic | 0.9522 | pathogenic | -0.174 | Destabilizing | 0.983 | D | 0.553 | neutral | N | 0.51699827 | None | None | N |
| S/K | 0.9953 | likely_pathogenic | 0.9926 | pathogenic | -0.412 | Destabilizing | 0.033 | N | 0.265 | neutral | None | None | None | None | N |
| S/L | 0.7867 | likely_pathogenic | 0.7668 | pathogenic | -0.174 | Destabilizing | 0.916 | D | 0.443 | neutral | None | None | None | None | N |
| S/M | 0.8855 | likely_pathogenic | 0.8792 | pathogenic | -0.148 | Destabilizing | 0.999 | D | 0.439 | neutral | None | None | None | None | N |
| S/N | 0.8939 | likely_pathogenic | 0.8602 | pathogenic | -0.192 | Destabilizing | 0.892 | D | 0.344 | neutral | N | 0.507837734 | None | None | N |
| S/P | 0.9843 | likely_pathogenic | 0.9807 | pathogenic | -0.149 | Destabilizing | 0.987 | D | 0.445 | neutral | None | None | None | None | N |
| S/Q | 0.9724 | likely_pathogenic | 0.9633 | pathogenic | -0.422 | Destabilizing | 0.975 | D | 0.377 | neutral | None | None | None | None | N |
| S/R | 0.9919 | likely_pathogenic | 0.9879 | pathogenic | -0.157 | Destabilizing | 0.935 | D | 0.385 | neutral | N | 0.477938923 | None | None | N |
| S/T | 0.4883 | ambiguous | 0.4423 | ambiguous | -0.307 | Destabilizing | 0.892 | D | 0.339 | neutral | N | 0.471773632 | None | None | N |
| S/V | 0.9165 | likely_pathogenic | 0.9105 | pathogenic | -0.149 | Destabilizing | 0.975 | D | 0.481 | neutral | None | None | None | None | N |
| S/W | 0.9613 | likely_pathogenic | 0.9587 | pathogenic | -0.957 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | N |
| S/Y | 0.9486 | likely_pathogenic | 0.9415 | pathogenic | -0.644 | Destabilizing | 0.996 | D | 0.549 | 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.