Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16030 | 48313;48314;48315 | chr2:178616801;178616800;178616799 | chr2:179481528;179481527;179481526 |
| N2AB | 14389 | 43390;43391;43392 | chr2:178616801;178616800;178616799 | chr2:179481528;179481527;179481526 |
| N2A | 13462 | 40609;40610;40611 | chr2:178616801;178616800;178616799 | chr2:179481528;179481527;179481526 |
| N2B | 6965 | 21118;21119;21120 | chr2:178616801;178616800;178616799 | chr2:179481528;179481527;179481526 |
| Novex-1 | 7090 | 21493;21494;21495 | chr2:178616801;178616800;178616799 | chr2:179481528;179481527;179481526 |
| Novex-2 | 7157 | 21694;21695;21696 | chr2:178616801;178616800;178616799 | chr2:179481528;179481527;179481526 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs764470678  |
0.281 | 0.767 | N | 0.271 | 0.175 | 0.307648195649 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| K/E | rs764470678 |
0.281 | 0.767 | N | 0.271 | 0.175 | 0.307648195649 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| K/R | rs1262384504 |
-0.284 | 0.996 | N | 0.451 | 0.284 | 0.51098835382 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66279E-04 |
| K/R | rs1262384504 |
-0.284 | 0.996 | N | 0.451 | 0.284 | 0.51098835382 | gnomAD-4.0.0 | 3.18655E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 6.05877E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.4647 | ambiguous | 0.5043 | ambiguous | -0.572 | Destabilizing | 0.997 | D | 0.541 | neutral | None | None | None | None | N |
| K/C | 0.7623 | likely_pathogenic | 0.7988 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| K/D | 0.8369 | likely_pathogenic | 0.8606 | pathogenic | 0.196 | Stabilizing | 0.994 | D | 0.619 | neutral | None | None | None | None | N |
| K/E | 0.2921 | likely_benign | 0.3402 | ambiguous | 0.282 | Stabilizing | 0.767 | D | 0.271 | neutral | N | 0.498316563 | None | None | N |
| K/F | 0.932 | likely_pathogenic | 0.945 | pathogenic | -0.41 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| K/G | 0.577 | likely_pathogenic | 0.6022 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| K/H | 0.4945 | ambiguous | 0.5376 | ambiguous | -1.147 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| K/I | 0.6972 | likely_pathogenic | 0.747 | pathogenic | 0.239 | Stabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| K/L | 0.6721 | likely_pathogenic | 0.7175 | pathogenic | 0.239 | Stabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| K/M | 0.4223 | ambiguous | 0.4631 | ambiguous | 0.102 | Stabilizing | 1.0 | D | 0.722 | prob.delet. | D | 0.577557694 | None | None | N |
| K/N | 0.6374 | likely_pathogenic | 0.682 | pathogenic | -0.283 | Destabilizing | 0.999 | D | 0.636 | neutral | N | 0.510968714 | None | None | N |
| K/P | 0.9574 | likely_pathogenic | 0.9588 | pathogenic | -0.001 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| K/Q | 0.1906 | likely_benign | 0.2107 | benign | -0.411 | Destabilizing | 0.999 | D | 0.609 | neutral | N | 0.511985756 | None | None | N |
| K/R | 0.0896 | likely_benign | 0.0973 | benign | -0.382 | Destabilizing | 0.996 | D | 0.451 | neutral | N | 0.508730301 | None | None | N |
| K/S | 0.5168 | ambiguous | 0.5676 | pathogenic | -1.019 | Destabilizing | 0.997 | D | 0.475 | neutral | None | None | None | None | N |
| K/T | 0.259 | likely_benign | 0.305 | benign | -0.734 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | N | 0.494376829 | None | None | N |
| K/V | 0.6299 | likely_pathogenic | 0.6829 | pathogenic | -0.001 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| K/W | 0.9224 | likely_pathogenic | 0.9381 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| K/Y | 0.8465 | likely_pathogenic | 0.8694 | pathogenic | 0.053 | Stabilizing | 1.0 | D | 0.771 | 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.