Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2422 | 7489;7490;7491 | chr2:178773904;178773903;178773902 | chr2:179638631;179638630;179638629 |
| N2AB | 2422 | 7489;7490;7491 | chr2:178773904;178773903;178773902 | chr2:179638631;179638630;179638629 |
| N2A | 2422 | 7489;7490;7491 | chr2:178773904;178773903;178773902 | chr2:179638631;179638630;179638629 |
| N2B | 2376 | 7351;7352;7353 | chr2:178773904;178773903;178773902 | chr2:179638631;179638630;179638629 |
| Novex-1 | 2376 | 7351;7352;7353 | chr2:178773904;178773903;178773902 | chr2:179638631;179638630;179638629 |
| Novex-2 | 2376 | 7351;7352;7353 | chr2:178773904;178773903;178773902 | chr2:179638631;179638630;179638629 |
| Novex-3 | 2422 | 7489;7490;7491 | chr2:178773904;178773903;178773902 | chr2:179638631;179638630;179638629 |
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 | rs1365893831  |
None | 0.811 | D | 0.453 | 0.255 | 0.563581552253 | 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 |
| A/V | rs1365893831 |
None | 0.811 | D | 0.453 | 0.255 | 0.563581552253 | gnomAD-4.0.0 | 6.57376E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47042E-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 | 0.4742 | ambiguous | 0.4778 | ambiguous | -0.69 | Destabilizing | 0.999 | D | 0.502 | neutral | None | None | None | None | N |
| A/D | 0.4239 | ambiguous | 0.4669 | ambiguous | -0.165 | Destabilizing | 0.968 | D | 0.647 | neutral | D | 0.636680939 | None | None | N |
| A/E | 0.2836 | likely_benign | 0.3118 | benign | -0.308 | Destabilizing | 0.976 | D | 0.599 | neutral | None | None | None | None | N |
| A/F | 0.4317 | ambiguous | 0.469 | ambiguous | -0.767 | Destabilizing | 0.988 | D | 0.725 | prob.delet. | None | None | None | None | N |
| A/G | 0.1337 | likely_benign | 0.1346 | benign | -0.228 | Destabilizing | 0.026 | N | 0.227 | neutral | N | 0.514716591 | None | None | N |
| A/H | 0.5772 | likely_pathogenic | 0.606 | pathogenic | -0.246 | Destabilizing | 0.999 | D | 0.702 | prob.neutral | None | None | None | None | N |
| A/I | 0.3426 | ambiguous | 0.3741 | ambiguous | -0.221 | Destabilizing | 0.976 | D | 0.655 | neutral | None | None | None | None | N |
| A/K | 0.5331 | ambiguous | 0.5686 | pathogenic | -0.474 | Destabilizing | 0.976 | D | 0.607 | neutral | None | None | None | None | N |
| A/L | 0.3022 | likely_benign | 0.3229 | benign | -0.221 | Destabilizing | 0.851 | D | 0.541 | neutral | None | None | None | None | N |
| A/M | 0.2652 | likely_benign | 0.2798 | benign | -0.344 | Destabilizing | 0.999 | D | 0.625 | neutral | None | None | None | None | N |
| A/N | 0.3587 | ambiguous | 0.3806 | ambiguous | -0.148 | Destabilizing | 0.976 | D | 0.687 | prob.neutral | None | None | None | None | N |
| A/P | 0.8777 | likely_pathogenic | 0.895 | pathogenic | -0.172 | Destabilizing | 0.984 | D | 0.651 | neutral | D | 0.599032242 | None | None | N |
| A/Q | 0.3842 | ambiguous | 0.4006 | ambiguous | -0.383 | Destabilizing | 0.988 | D | 0.657 | neutral | None | None | None | None | N |
| A/R | 0.4321 | ambiguous | 0.462 | ambiguous | -0.072 | Destabilizing | 0.976 | D | 0.661 | neutral | None | None | None | None | N |
| A/S | 0.0884 | likely_benign | 0.0898 | benign | -0.394 | Destabilizing | 0.103 | N | 0.274 | neutral | N | 0.485126855 | None | None | N |
| A/T | 0.1026 | likely_benign | 0.1069 | benign | -0.448 | Destabilizing | 0.211 | N | 0.247 | neutral | N | 0.4920685 | None | None | N |
| A/V | 0.1912 | likely_benign | 0.2041 | benign | -0.172 | Destabilizing | 0.811 | D | 0.453 | neutral | D | 0.555119414 | None | None | N |
| A/W | 0.8258 | likely_pathogenic | 0.8462 | pathogenic | -0.921 | Destabilizing | 0.999 | D | 0.696 | prob.neutral | None | None | None | None | N |
| A/Y | 0.578 | likely_pathogenic | 0.6087 | pathogenic | -0.559 | Destabilizing | 0.996 | D | 0.727 | 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.