Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24211 | 72856;72857;72858 | chr2:178573501;178573500;178573499 | chr2:179438228;179438227;179438226 |
| N2AB | 22570 | 67933;67934;67935 | chr2:178573501;178573500;178573499 | chr2:179438228;179438227;179438226 |
| N2A | 21643 | 65152;65153;65154 | chr2:178573501;178573500;178573499 | chr2:179438228;179438227;179438226 |
| N2B | 15146 | 45661;45662;45663 | chr2:178573501;178573500;178573499 | chr2:179438228;179438227;179438226 |
| Novex-1 | 15271 | 46036;46037;46038 | chr2:178573501;178573500;178573499 | chr2:179438228;179438227;179438226 |
| Novex-2 | 15338 | 46237;46238;46239 | chr2:178573501;178573500;178573499 | chr2:179438228;179438227;179438226 |
| 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/T | rs758212615  |
-0.441 | 0.997 | N | 0.723 | 0.228 | 0.365120060079 | gnomAD-2.1.1 | 5.42E-05 | None | None | None | None | N | None | 0 | 3.47021E-04 | None | 0 | 0 | None | 1.50693E-04 | None | 0 | 1.2E-05 | 0 |
| S/T | rs758212615 |
-0.441 | 0.997 | N | 0.723 | 0.228 | 0.365120060079 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 0 | 3.27697E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| S/T | rs758212615 |
-0.441 | 0.997 | N | 0.723 | 0.228 | 0.365120060079 | gnomAD-4.0.0 | 1.73517E-05 | None | None | None | None | N | None | 0 | 2.69146E-04 | None | 0 | 0 | None | 0 | 3.5868E-04 | 4.43526E-06 | 5.82954E-05 | 6.95217E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.3397 | likely_benign | 0.4051 | ambiguous | -0.522 | Destabilizing | 0.994 | D | 0.602 | neutral | N | 0.492117429 | None | None | N |
| S/C | 0.4443 | ambiguous | 0.525 | ambiguous | -0.361 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| S/D | 0.9584 | likely_pathogenic | 0.9576 | pathogenic | -0.292 | Destabilizing | 0.998 | D | 0.794 | deleterious | None | None | None | None | N |
| S/E | 0.9835 | likely_pathogenic | 0.983 | pathogenic | -0.19 | Destabilizing | 0.998 | D | 0.797 | deleterious | None | None | None | None | N |
| S/F | 0.9663 | likely_pathogenic | 0.9768 | pathogenic | -0.381 | Destabilizing | 0.999 | D | 0.837 | deleterious | None | None | None | None | N |
| S/G | 0.3017 | likely_benign | 0.3486 | ambiguous | -0.872 | Destabilizing | 0.998 | D | 0.697 | prob.delet. | None | None | None | None | N |
| S/H | 0.9766 | likely_pathogenic | 0.9798 | pathogenic | -1.292 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| S/I | 0.8907 | likely_pathogenic | 0.9293 | pathogenic | 0.329 | Stabilizing | 0.999 | D | 0.841 | deleterious | None | None | None | None | N |
| S/K | 0.9962 | likely_pathogenic | 0.9964 | pathogenic | -0.376 | Destabilizing | 0.998 | D | 0.783 | deleterious | None | None | None | None | N |
| S/L | 0.6484 | likely_pathogenic | 0.7429 | pathogenic | 0.329 | Stabilizing | 0.999 | D | 0.795 | deleterious | D | 0.53977115 | None | None | N |
| S/M | 0.6747 | likely_pathogenic | 0.7493 | pathogenic | 0.231 | Stabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| S/N | 0.8339 | likely_pathogenic | 0.8662 | pathogenic | -0.627 | Destabilizing | 0.998 | D | 0.799 | deleterious | None | None | None | None | N |
| S/P | 0.9899 | likely_pathogenic | 0.9916 | pathogenic | 0.082 | Stabilizing | 0.999 | D | 0.839 | deleterious | N | 0.496600881 | None | None | N |
| S/Q | 0.9828 | likely_pathogenic | 0.9838 | pathogenic | -0.524 | Destabilizing | 0.999 | D | 0.844 | deleterious | None | None | None | None | N |
| S/R | 0.9955 | likely_pathogenic | 0.9961 | pathogenic | -0.601 | Destabilizing | 0.999 | D | 0.839 | deleterious | None | None | None | None | N |
| S/T | 0.1244 | likely_benign | 0.1589 | benign | -0.487 | Destabilizing | 0.997 | D | 0.723 | deleterious | N | 0.521586183 | None | None | N |
| S/V | 0.8037 | likely_pathogenic | 0.8636 | pathogenic | 0.082 | Stabilizing | 0.999 | D | 0.837 | deleterious | None | None | None | None | N |
| S/W | 0.9746 | likely_pathogenic | 0.9784 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| S/Y | 0.9496 | likely_pathogenic | 0.9615 | pathogenic | -0.136 | Destabilizing | 0.999 | D | 0.848 | 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.