Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2638 | 8137;8138;8139 | chr2:178771415;178771414;178771413 | chr2:179636142;179636141;179636140 |
| N2AB | 2638 | 8137;8138;8139 | chr2:178771415;178771414;178771413 | chr2:179636142;179636141;179636140 |
| N2A | 2638 | 8137;8138;8139 | chr2:178771415;178771414;178771413 | chr2:179636142;179636141;179636140 |
| N2B | 2592 | 7999;8000;8001 | chr2:178771415;178771414;178771413 | chr2:179636142;179636141;179636140 |
| Novex-1 | 2592 | 7999;8000;8001 | chr2:178771415;178771414;178771413 | chr2:179636142;179636141;179636140 |
| Novex-2 | 2592 | 7999;8000;8001 | chr2:178771415;178771414;178771413 | chr2:179636142;179636141;179636140 |
| Novex-3 | 2638 | 8137;8138;8139 | chr2:178771415;178771414;178771413 | chr2:179636142;179636141;179636140 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/E | None | None | 0.125 | N | 0.444 | 0.207 | 0.32053947749 | gnomAD-4.0.0 | 3.1818E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71481E-06 | 0 | 0 |
| V/L | rs878870422  |
None | 0.247 | N | 0.503 | 0.097 | 0.276898752692 | gnomAD-4.0.0 | 1.59093E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85752E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1846 | likely_benign | 0.1909 | benign | -1.453 | Destabilizing | 0.822 | D | 0.585 | neutral | N | 0.364418891 | None | None | N |
| V/C | 0.6596 | likely_pathogenic | 0.6758 | pathogenic | -0.835 | Destabilizing | 0.998 | D | 0.691 | prob.neutral | None | None | None | None | N |
| V/D | 0.3843 | ambiguous | 0.3638 | ambiguous | -1.423 | Destabilizing | 0.915 | D | 0.697 | prob.neutral | None | None | None | None | N |
| V/E | 0.2254 | likely_benign | 0.2191 | benign | -1.37 | Destabilizing | 0.125 | N | 0.444 | neutral | N | 0.346109396 | None | None | N |
| V/F | 0.1523 | likely_benign | 0.1527 | benign | -0.968 | Destabilizing | 0.956 | D | 0.704 | prob.neutral | None | None | None | None | N |
| V/G | 0.2881 | likely_benign | 0.277 | benign | -1.808 | Destabilizing | 0.97 | D | 0.705 | prob.neutral | N | 0.411014385 | None | None | N |
| V/H | 0.4659 | ambiguous | 0.454 | ambiguous | -1.279 | Destabilizing | 0.998 | D | 0.738 | prob.delet. | None | None | None | None | N |
| V/I | 0.0694 | likely_benign | 0.0723 | benign | -0.556 | Destabilizing | 0.019 | N | 0.25 | neutral | None | None | None | None | N |
| V/K | 0.281 | likely_benign | 0.2686 | benign | -1.288 | Destabilizing | 0.956 | D | 0.668 | neutral | None | None | None | None | N |
| V/L | 0.149 | likely_benign | 0.153 | benign | -0.556 | Destabilizing | 0.247 | N | 0.503 | neutral | N | 0.329612345 | None | None | N |
| V/M | 0.126 | likely_benign | 0.1298 | benign | -0.425 | Destabilizing | 0.942 | D | 0.617 | neutral | N | 0.319708057 | None | None | N |
| V/N | 0.2564 | likely_benign | 0.2544 | benign | -1.171 | Destabilizing | 0.978 | D | 0.751 | deleterious | None | None | None | None | N |
| V/P | 0.9191 | likely_pathogenic | 0.8941 | pathogenic | -0.822 | Destabilizing | 0.993 | D | 0.721 | prob.delet. | None | None | None | None | N |
| V/Q | 0.2775 | likely_benign | 0.2679 | benign | -1.268 | Destabilizing | 0.956 | D | 0.725 | prob.delet. | None | None | None | None | N |
| V/R | 0.2531 | likely_benign | 0.2354 | benign | -0.794 | Destabilizing | 0.956 | D | 0.755 | deleterious | None | None | None | None | N |
| V/S | 0.1952 | likely_benign | 0.1945 | benign | -1.681 | Destabilizing | 0.956 | D | 0.673 | neutral | None | None | None | None | N |
| V/T | 0.1511 | likely_benign | 0.1606 | benign | -1.516 | Destabilizing | 0.86 | D | 0.566 | neutral | None | None | None | None | N |
| V/W | 0.7494 | likely_pathogenic | 0.7366 | pathogenic | -1.242 | Destabilizing | 0.998 | D | 0.694 | prob.neutral | None | None | None | None | N |
| V/Y | 0.4707 | ambiguous | 0.4594 | ambiguous | -0.918 | Destabilizing | 0.978 | D | 0.71 | 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.