Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22402 | 67429;67430;67431 | chr2:178580083;178580082;178580081 | chr2:179444810;179444809;179444808 |
| N2AB | 20761 | 62506;62507;62508 | chr2:178580083;178580082;178580081 | chr2:179444810;179444809;179444808 |
| N2A | 19834 | 59725;59726;59727 | chr2:178580083;178580082;178580081 | chr2:179444810;179444809;179444808 |
| N2B | 13337 | 40234;40235;40236 | chr2:178580083;178580082;178580081 | chr2:179444810;179444809;179444808 |
| Novex-1 | 13462 | 40609;40610;40611 | chr2:178580083;178580082;178580081 | chr2:179444810;179444809;179444808 |
| Novex-2 | 13529 | 40810;40811;40812 | chr2:178580083;178580082;178580081 | chr2:179444810;179444809;179444808 |
| 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/A | None | None | 0.472 | N | 0.308 | 0.112 | 0.184867976434 | gnomAD-4.0.0 | 6.84377E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99682E-07 | 0 | 0 |
| S/T | None | None | 0.012 | N | 0.119 | 0.093 | 0.165133752707 | gnomAD-4.0.0 | 6.84377E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99682E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0947 | likely_benign | 0.0852 | benign | -0.703 | Destabilizing | 0.472 | N | 0.308 | neutral | N | 0.452293882 | None | None | N |
| S/C | 0.1545 | likely_benign | 0.1279 | benign | -0.516 | Destabilizing | 0.994 | D | 0.373 | neutral | N | 0.508262084 | None | None | N |
| S/D | 0.6594 | likely_pathogenic | 0.6016 | pathogenic | 0.31 | Stabilizing | 0.854 | D | 0.355 | neutral | None | None | None | None | N |
| S/E | 0.6773 | likely_pathogenic | 0.6156 | pathogenic | 0.276 | Stabilizing | 0.854 | D | 0.304 | neutral | None | None | None | None | N |
| S/F | 0.3818 | ambiguous | 0.3225 | benign | -1.035 | Destabilizing | 0.884 | D | 0.445 | neutral | N | 0.4933725 | None | None | N |
| S/G | 0.1678 | likely_benign | 0.1422 | benign | -0.895 | Destabilizing | 0.854 | D | 0.319 | neutral | None | None | None | None | N |
| S/H | 0.531 | ambiguous | 0.4805 | ambiguous | -1.242 | Destabilizing | 0.996 | D | 0.375 | neutral | None | None | None | None | N |
| S/I | 0.2419 | likely_benign | 0.1985 | benign | -0.311 | Destabilizing | 0.59 | D | 0.376 | neutral | None | None | None | None | N |
| S/K | 0.8499 | likely_pathogenic | 0.8213 | pathogenic | -0.505 | Destabilizing | 0.742 | D | 0.297 | neutral | None | None | None | None | N |
| S/L | 0.1407 | likely_benign | 0.1232 | benign | -0.311 | Destabilizing | 0.009 | N | 0.287 | neutral | None | None | None | None | N |
| S/M | 0.2174 | likely_benign | 0.1744 | benign | -0.19 | Destabilizing | 0.91 | D | 0.392 | neutral | None | None | None | None | N |
| S/N | 0.2053 | likely_benign | 0.1776 | benign | -0.406 | Destabilizing | 0.854 | D | 0.395 | neutral | None | None | None | None | N |
| S/P | 0.9411 | likely_pathogenic | 0.9401 | pathogenic | -0.41 | Destabilizing | 0.979 | D | 0.417 | neutral | N | 0.48075008 | None | None | N |
| S/Q | 0.586 | likely_pathogenic | 0.5251 | ambiguous | -0.564 | Destabilizing | 0.984 | D | 0.427 | neutral | None | None | None | None | N |
| S/R | 0.8401 | likely_pathogenic | 0.8164 | pathogenic | -0.343 | Destabilizing | 0.953 | D | 0.419 | neutral | None | None | None | None | N |
| S/T | 0.0998 | likely_benign | 0.0808 | benign | -0.515 | Destabilizing | 0.012 | N | 0.119 | neutral | N | 0.424992638 | None | None | N |
| S/V | 0.2212 | likely_benign | 0.1748 | benign | -0.41 | Destabilizing | 0.59 | D | 0.363 | neutral | None | None | None | None | N |
| S/W | 0.6042 | likely_pathogenic | 0.5728 | pathogenic | -0.981 | Destabilizing | 0.996 | D | 0.479 | neutral | None | None | None | None | N |
| S/Y | 0.3469 | ambiguous | 0.316 | benign | -0.72 | Destabilizing | 0.939 | D | 0.427 | neutral | N | 0.466773655 | 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.