Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33383 | 100372;100373;100374 | chr2:178536962;178536961;178536960 | chr2:179401689;179401688;179401687 |
| N2AB | 31742 | 95449;95450;95451 | chr2:178536962;178536961;178536960 | chr2:179401689;179401688;179401687 |
| N2A | 30815 | 92668;92669;92670 | chr2:178536962;178536961;178536960 | chr2:179401689;179401688;179401687 |
| N2B | 24318 | 73177;73178;73179 | chr2:178536962;178536961;178536960 | chr2:179401689;179401688;179401687 |
| Novex-1 | 24443 | 73552;73553;73554 | chr2:178536962;178536961;178536960 | chr2:179401689;179401688;179401687 |
| Novex-2 | 24510 | 73753;73754;73755 | chr2:178536962;178536961;178536960 | chr2:179401689;179401688;179401687 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1237202129  |
None | 0.189 | N | 0.52 | 0.196 | 0.440705552886 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 0 | 0 | 0 |
| V/A | rs1237202129 |
None | 0.189 | N | 0.52 | 0.196 | 0.440705552886 | gnomAD-4.0.0 | 2.56461E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.5704E-05 | 0 | 0 | 0 | 2.84738E-05 |
| V/I | rs1691876264 |
None | 0.001 | N | 0.218 | 0.024 | 0.243398259712 | gnomAD-4.0.0 | 3.18697E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86164E-06 | 0 | 3.0281E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2303 | likely_benign | 0.1974 | benign | -0.724 | Destabilizing | 0.189 | N | 0.52 | neutral | N | 0.438612509 | None | None | N |
| V/C | 0.8142 | likely_pathogenic | 0.778 | pathogenic | -0.728 | Destabilizing | 0.962 | D | 0.754 | deleterious | None | None | None | None | N |
| V/D | 0.7132 | likely_pathogenic | 0.6688 | pathogenic | 0.157 | Stabilizing | 0.623 | D | 0.817 | deleterious | N | 0.492737782 | None | None | N |
| V/E | 0.5374 | ambiguous | 0.5015 | ambiguous | 0.134 | Stabilizing | 0.687 | D | 0.775 | deleterious | None | None | None | None | N |
| V/F | 0.4105 | ambiguous | 0.3419 | ambiguous | -0.486 | Destabilizing | 0.449 | N | 0.757 | deleterious | N | 0.490137407 | None | None | N |
| V/G | 0.4791 | ambiguous | 0.4294 | ambiguous | -0.972 | Destabilizing | 0.623 | D | 0.795 | deleterious | N | 0.502992061 | None | None | N |
| V/H | 0.8342 | likely_pathogenic | 0.7948 | pathogenic | -0.35 | Destabilizing | 0.962 | D | 0.82 | deleterious | None | None | None | None | N |
| V/I | 0.0997 | likely_benign | 0.0857 | benign | -0.182 | Destabilizing | 0.001 | N | 0.218 | neutral | N | 0.458161062 | None | None | N |
| V/K | 0.5902 | likely_pathogenic | 0.543 | ambiguous | -0.504 | Destabilizing | 0.687 | D | 0.78 | deleterious | None | None | None | None | N |
| V/L | 0.2781 | likely_benign | 0.2371 | benign | -0.182 | Destabilizing | 0.016 | N | 0.431 | neutral | N | 0.458854495 | None | None | N |
| V/M | 0.2367 | likely_benign | 0.1843 | benign | -0.366 | Destabilizing | 0.519 | D | 0.655 | prob.neutral | None | None | None | None | N |
| V/N | 0.5533 | ambiguous | 0.4874 | ambiguous | -0.382 | Destabilizing | 0.87 | D | 0.813 | deleterious | None | None | None | None | N |
| V/P | 0.3787 | ambiguous | 0.3844 | ambiguous | -0.326 | Destabilizing | 0.87 | D | 0.801 | deleterious | None | None | None | None | N |
| V/Q | 0.5745 | likely_pathogenic | 0.5434 | ambiguous | -0.471 | Destabilizing | 0.87 | D | 0.793 | deleterious | None | None | None | None | N |
| V/R | 0.5576 | ambiguous | 0.5196 | ambiguous | -0.124 | Destabilizing | 0.687 | D | 0.811 | deleterious | None | None | None | None | N |
| V/S | 0.4039 | ambiguous | 0.3448 | ambiguous | -0.944 | Destabilizing | 0.687 | D | 0.771 | deleterious | None | None | None | None | N |
| V/T | 0.2509 | likely_benign | 0.2173 | benign | -0.844 | Destabilizing | 0.236 | N | 0.666 | prob.neutral | None | None | None | None | N |
| V/W | 0.9371 | likely_pathogenic | 0.9177 | pathogenic | -0.612 | Destabilizing | 0.962 | D | 0.793 | deleterious | None | None | None | None | N |
| V/Y | 0.7955 | likely_pathogenic | 0.7589 | pathogenic | -0.303 | Destabilizing | 0.687 | D | 0.765 | deleterious | 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.