Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25590 | 76993;76994;76995 | chr2:178569364;178569363;178569362 | chr2:179434091;179434090;179434089 |
| N2AB | 23949 | 72070;72071;72072 | chr2:178569364;178569363;178569362 | chr2:179434091;179434090;179434089 |
| N2A | 23022 | 69289;69290;69291 | chr2:178569364;178569363;178569362 | chr2:179434091;179434090;179434089 |
| N2B | 16525 | 49798;49799;49800 | chr2:178569364;178569363;178569362 | chr2:179434091;179434090;179434089 |
| Novex-1 | 16650 | 50173;50174;50175 | chr2:178569364;178569363;178569362 | chr2:179434091;179434090;179434089 |
| Novex-2 | 16717 | 50374;50375;50376 | chr2:178569364;178569363;178569362 | chr2:179434091;179434090;179434089 |
| 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/N | rs1707266415  |
None | 1.0 | N | 0.721 | 0.329 | 0.319686207203 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | rs1707266415 |
None | 1.0 | N | 0.721 | 0.329 | 0.319686207203 | gnomAD-4.0.0 | 6.57497E-06 | None | None | None | None | N | None | 2.41313E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs1348119178 |
0.046 | 0.999 | D | 0.571 | 0.292 | 0.520586239559 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| K/R | rs1348119178 |
0.046 | 0.999 | D | 0.571 | 0.292 | 0.520586239559 | gnomAD-4.0.0 | 1.59207E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8599E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.625 | likely_pathogenic | 0.6385 | pathogenic | 0.017 | Stabilizing | 0.999 | D | 0.666 | neutral | None | None | None | None | N |
| K/C | 0.8503 | likely_pathogenic | 0.8581 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| K/D | 0.9611 | likely_pathogenic | 0.9609 | pathogenic | 0.115 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| K/E | 0.6689 | likely_pathogenic | 0.6845 | pathogenic | 0.106 | Stabilizing | 0.999 | D | 0.624 | neutral | N | 0.512932201 | None | None | N |
| K/F | 0.9635 | likely_pathogenic | 0.9686 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| K/G | 0.8689 | likely_pathogenic | 0.8672 | pathogenic | -0.142 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/H | 0.6407 | likely_pathogenic | 0.6744 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| K/I | 0.6959 | likely_pathogenic | 0.7291 | pathogenic | 0.346 | Stabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| K/L | 0.7542 | likely_pathogenic | 0.7725 | pathogenic | 0.346 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/M | 0.5919 | likely_pathogenic | 0.6223 | pathogenic | 0.17 | Stabilizing | 1.0 | D | 0.673 | neutral | N | 0.503445098 | None | None | N |
| K/N | 0.8836 | likely_pathogenic | 0.8876 | pathogenic | 0.238 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | N | 0.485554652 | None | None | N |
| K/P | 0.9924 | likely_pathogenic | 0.9922 | pathogenic | 0.263 | Stabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| K/Q | 0.318 | likely_benign | 0.3408 | ambiguous | 0.059 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.489807387 | None | None | N |
| K/R | 0.1044 | likely_benign | 0.1141 | benign | 0.008 | Stabilizing | 0.999 | D | 0.571 | neutral | D | 0.526093499 | None | None | N |
| K/S | 0.7835 | likely_pathogenic | 0.7937 | pathogenic | -0.238 | Destabilizing | 0.999 | D | 0.666 | neutral | None | None | None | None | N |
| K/T | 0.4792 | ambiguous | 0.5016 | ambiguous | -0.11 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.529056447 | None | None | N |
| K/V | 0.5511 | ambiguous | 0.5829 | pathogenic | 0.263 | Stabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| K/W | 0.9721 | likely_pathogenic | 0.9765 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| K/Y | 0.9209 | likely_pathogenic | 0.9329 | pathogenic | 0.029 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | 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.