Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25166 | 75721;75722;75723 | chr2:178570636;178570635;178570634 | chr2:179435363;179435362;179435361 |
| N2AB | 23525 | 70798;70799;70800 | chr2:178570636;178570635;178570634 | chr2:179435363;179435362;179435361 |
| N2A | 22598 | 68017;68018;68019 | chr2:178570636;178570635;178570634 | chr2:179435363;179435362;179435361 |
| N2B | 16101 | 48526;48527;48528 | chr2:178570636;178570635;178570634 | chr2:179435363;179435362;179435361 |
| Novex-1 | 16226 | 48901;48902;48903 | chr2:178570636;178570635;178570634 | chr2:179435363;179435362;179435361 |
| Novex-2 | 16293 | 49102;49103;49104 | chr2:178570636;178570635;178570634 | chr2:179435363;179435362;179435361 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs753641145  |
-0.305 | None | N | 0.184 | 0.096 | 0.32471235697 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| A/V | rs753641145 |
-0.305 | None | N | 0.184 | 0.096 | 0.32471235697 | gnomAD-4.0.0 | 8.21211E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.0795E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.2396 | likely_benign | 0.2629 | benign | -0.949 | Destabilizing | 0.824 | D | 0.615 | neutral | None | None | None | None | N |
| A/D | 0.238 | likely_benign | 0.2803 | benign | -0.474 | Destabilizing | 0.062 | N | 0.627 | neutral | N | 0.441186746 | None | None | N |
| A/E | 0.1994 | likely_benign | 0.2302 | benign | -0.579 | Destabilizing | 0.081 | N | 0.583 | neutral | None | None | None | None | N |
| A/F | 0.1773 | likely_benign | 0.1854 | benign | -1.105 | Destabilizing | 0.38 | N | 0.644 | neutral | None | None | None | None | N |
| A/G | 0.1334 | likely_benign | 0.1408 | benign | -0.756 | Destabilizing | 0.027 | N | 0.503 | neutral | N | 0.390605997 | None | None | N |
| A/H | 0.2294 | likely_benign | 0.2623 | benign | -0.833 | Destabilizing | 0.824 | D | 0.601 | neutral | None | None | None | None | N |
| A/I | 0.145 | likely_benign | 0.1545 | benign | -0.441 | Destabilizing | 0.081 | N | 0.569 | neutral | None | None | None | None | N |
| A/K | 0.2503 | likely_benign | 0.2969 | benign | -0.7 | Destabilizing | 0.081 | N | 0.592 | neutral | None | None | None | None | N |
| A/L | 0.1126 | likely_benign | 0.1148 | benign | -0.441 | Destabilizing | 0.035 | N | 0.567 | neutral | None | None | None | None | N |
| A/M | 0.1413 | likely_benign | 0.1483 | benign | -0.401 | Destabilizing | 0.555 | D | 0.597 | neutral | None | None | None | None | N |
| A/N | 0.1569 | likely_benign | 0.1772 | benign | -0.423 | Destabilizing | 0.002 | N | 0.475 | neutral | None | None | None | None | N |
| A/P | 0.7116 | likely_pathogenic | 0.7975 | pathogenic | -0.464 | Destabilizing | 0.317 | N | 0.641 | neutral | N | 0.468797422 | None | None | N |
| A/Q | 0.2042 | likely_benign | 0.2257 | benign | -0.675 | Destabilizing | 0.38 | N | 0.638 | neutral | None | None | None | None | N |
| A/R | 0.2156 | likely_benign | 0.2598 | benign | -0.347 | Destabilizing | 0.38 | N | 0.639 | neutral | None | None | None | None | N |
| A/S | 0.0721 | likely_benign | 0.074 | benign | -0.768 | Destabilizing | None | N | 0.27 | neutral | N | 0.380599647 | None | None | N |
| A/T | 0.0647 | likely_benign | 0.0654 | benign | -0.781 | Destabilizing | 0.001 | N | 0.187 | neutral | N | 0.358338863 | None | None | N |
| A/V | 0.0946 | likely_benign | 0.1 | benign | -0.464 | Destabilizing | None | N | 0.184 | neutral | N | 0.408210323 | None | None | N |
| A/W | 0.517 | ambiguous | 0.5558 | ambiguous | -1.265 | Destabilizing | 0.935 | D | 0.666 | neutral | None | None | None | None | N |
| A/Y | 0.2429 | likely_benign | 0.2689 | benign | -0.881 | Destabilizing | 0.555 | D | 0.653 | neutral | 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.