Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3178 | 9757;9758;9759 | chr2:178766552;178766551;178766550 | chr2:179631279;179631278;179631277 |
| N2AB | 3178 | 9757;9758;9759 | chr2:178766552;178766551;178766550 | chr2:179631279;179631278;179631277 |
| N2A | 3178 | 9757;9758;9759 | chr2:178766552;178766551;178766550 | chr2:179631279;179631278;179631277 |
| N2B | 3132 | 9619;9620;9621 | chr2:178766552;178766551;178766550 | chr2:179631279;179631278;179631277 |
| Novex-1 | 3132 | 9619;9620;9621 | chr2:178766552;178766551;178766550 | chr2:179631279;179631278;179631277 |
| Novex-2 | 3132 | 9619;9620;9621 | chr2:178766552;178766551;178766550 | chr2:179631279;179631278;179631277 |
| Novex-3 | 3178 | 9757;9758;9759 | chr2:178766552;178766551;178766550 | chr2:179631279;179631278;179631277 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/L | rs1334781459  |
-0.99 | 0.183 | N | 0.475 | 0.283 | 0.474722520063 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| H/L | rs1334781459 |
-0.99 | 0.183 | N | 0.475 | 0.283 | 0.474722520063 | gnomAD-4.0.0 | 4.78863E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39581E-06 | 0 | 1.65596E-05 |
| H/P | None | None | 0.523 | N | 0.552 | 0.405 | 0.356897458496 | gnomAD-4.0.0 | 6.8409E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99302E-07 | 0 | 0 |
| H/R | rs1334781459 |
-1.106 | None | N | 0.241 | 0.297 | 0.0954503805726 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| H/R | rs1334781459 |
-1.106 | None | N | 0.241 | 0.297 | 0.0954503805726 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| H/R | rs1334781459 |
-1.106 | None | N | 0.241 | 0.297 | 0.0954503805726 | gnomAD-4.0.0 | 1.23919E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69491E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.5004 | ambiguous | 0.5516 | ambiguous | -0.955 | Destabilizing | 0.114 | N | 0.371 | neutral | None | None | None | None | N |
| H/C | 0.2739 | likely_benign | 0.303 | benign | 0.055 | Stabilizing | 0.983 | D | 0.546 | neutral | None | None | None | None | N |
| H/D | 0.5033 | ambiguous | 0.5826 | pathogenic | -1.182 | Destabilizing | 0.183 | N | 0.513 | neutral | N | 0.464614946 | None | None | N |
| H/E | 0.4822 | ambiguous | 0.5449 | ambiguous | -1.049 | Destabilizing | 0.061 | N | 0.367 | neutral | None | None | None | None | N |
| H/F | 0.4426 | ambiguous | 0.4828 | ambiguous | 0.617 | Stabilizing | 0.94 | D | 0.573 | neutral | None | None | None | None | N |
| H/G | 0.6151 | likely_pathogenic | 0.6904 | pathogenic | -1.344 | Destabilizing | 0.228 | N | 0.439 | neutral | None | None | None | None | N |
| H/I | 0.4362 | ambiguous | 0.4841 | ambiguous | 0.152 | Stabilizing | 0.593 | D | 0.598 | neutral | None | None | None | None | N |
| H/K | 0.2522 | likely_benign | 0.3173 | benign | -0.493 | Destabilizing | 0.061 | N | 0.322 | neutral | None | None | None | None | N |
| H/L | 0.1943 | likely_benign | 0.2236 | benign | 0.152 | Stabilizing | 0.183 | N | 0.475 | neutral | N | 0.484833154 | None | None | N |
| H/M | 0.6332 | likely_pathogenic | 0.6686 | pathogenic | -0.01 | Destabilizing | 0.836 | D | 0.547 | neutral | None | None | None | None | N |
| H/N | 0.1751 | likely_benign | 0.2079 | benign | -0.87 | Destabilizing | 0.183 | N | 0.503 | neutral | N | 0.44200905 | None | None | N |
| H/P | 0.8323 | likely_pathogenic | 0.8793 | pathogenic | -0.2 | Destabilizing | 0.523 | D | 0.552 | neutral | N | 0.484957192 | None | None | N |
| H/Q | 0.2263 | likely_benign | 0.2572 | benign | -0.617 | Destabilizing | 0.003 | N | 0.284 | neutral | N | 0.378760695 | None | None | N |
| H/R | 0.0897 | likely_benign | 0.1087 | benign | -1.026 | Destabilizing | None | N | 0.241 | neutral | N | 0.31928853 | None | None | N |
| H/S | 0.388 | ambiguous | 0.4353 | ambiguous | -0.762 | Destabilizing | 0.228 | N | 0.437 | neutral | None | None | None | None | N |
| H/T | 0.4256 | ambiguous | 0.466 | ambiguous | -0.517 | Destabilizing | 0.228 | N | 0.486 | neutral | None | None | None | None | N |
| H/V | 0.3563 | ambiguous | 0.3858 | ambiguous | -0.2 | Destabilizing | 0.418 | N | 0.548 | neutral | None | None | None | None | N |
| H/W | 0.5328 | ambiguous | 0.5735 | pathogenic | 1.017 | Stabilizing | 0.983 | D | 0.541 | neutral | None | None | None | None | N |
| H/Y | 0.1632 | likely_benign | 0.1872 | benign | 0.925 | Stabilizing | 0.77 | D | 0.508 | neutral | N | 0.466000906 | 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.