Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19492 | 58699;58700;58701 | chr2:178593826;178593825;178593824 | chr2:179458553;179458552;179458551 |
| N2AB | 17851 | 53776;53777;53778 | chr2:178593826;178593825;178593824 | chr2:179458553;179458552;179458551 |
| N2A | 16924 | 50995;50996;50997 | chr2:178593826;178593825;178593824 | chr2:179458553;179458552;179458551 |
| N2B | 10427 | 31504;31505;31506 | chr2:178593826;178593825;178593824 | chr2:179458553;179458552;179458551 |
| Novex-1 | 10552 | 31879;31880;31881 | chr2:178593826;178593825;178593824 | chr2:179458553;179458552;179458551 |
| Novex-2 | 10619 | 32080;32081;32082 | chr2:178593826;178593825;178593824 | chr2:179458553;179458552;179458551 |
| 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/G | rs2050770436  |
None | 1.0 | N | 0.847 | 0.513 | 0.7700109816 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs2050770436 |
None | 1.0 | N | 0.847 | 0.513 | 0.7700109816 | gnomAD-4.0.0 | 6.57938E-06 | None | None | None | None | N | None | 2.41581E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs1224533828 |
-0.7 | 0.962 | N | 0.387 | 0.274 | 0.430126000877 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs1224533828 |
-0.7 | 0.962 | N | 0.387 | 0.274 | 0.430126000877 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs1224533828 |
-0.7 | 0.962 | N | 0.387 | 0.274 | 0.430126000877 | gnomAD-4.0.0 | 6.5786E-06 | None | None | None | None | N | None | 2.41558E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | None | None | 0.999 | N | 0.709 | 0.382 | 0.502568190621 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 6.17284E-04 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5383 | ambiguous | 0.5352 | ambiguous | -1.464 | Destabilizing | 0.992 | D | 0.491 | neutral | D | 0.526506426 | None | None | N |
| V/C | 0.8717 | likely_pathogenic | 0.868 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| V/D | 0.8745 | likely_pathogenic | 0.8593 | pathogenic | -1.393 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/E | 0.7493 | likely_pathogenic | 0.7218 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.52141927 | None | None | N |
| V/F | 0.4948 | ambiguous | 0.4769 | ambiguous | -1.093 | Destabilizing | 0.999 | D | 0.818 | deleterious | None | None | None | None | N |
| V/G | 0.6358 | likely_pathogenic | 0.6436 | pathogenic | -1.807 | Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.500227596 | None | None | N |
| V/H | 0.9255 | likely_pathogenic | 0.9146 | pathogenic | -1.431 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| V/I | 0.0753 | likely_benign | 0.0783 | benign | -0.617 | Destabilizing | 0.683 | D | 0.273 | neutral | None | None | None | None | N |
| V/K | 0.7778 | likely_pathogenic | 0.7555 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| V/L | 0.4656 | ambiguous | 0.4585 | ambiguous | -0.617 | Destabilizing | 0.962 | D | 0.387 | neutral | N | 0.484601089 | None | None | N |
| V/M | 0.3069 | likely_benign | 0.3122 | benign | -0.477 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | N | 0.481616362 | None | None | N |
| V/N | 0.7477 | likely_pathogenic | 0.7342 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| V/P | 0.9013 | likely_pathogenic | 0.8908 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| V/Q | 0.7564 | likely_pathogenic | 0.7413 | pathogenic | -1.164 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| V/R | 0.7722 | likely_pathogenic | 0.7416 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| V/S | 0.7099 | likely_pathogenic | 0.7019 | pathogenic | -1.538 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| V/T | 0.5069 | ambiguous | 0.5086 | ambiguous | -1.408 | Destabilizing | 0.997 | D | 0.601 | neutral | None | None | None | None | N |
| V/W | 0.9625 | likely_pathogenic | 0.9569 | pathogenic | -1.336 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/Y | 0.8513 | likely_pathogenic | 0.8363 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.825 | 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.