Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 952 | 3079;3080;3081 | chr2:178783052;178783051;178783050 | chr2:179647779;179647778;179647777 |
| N2AB | 952 | 3079;3080;3081 | chr2:178783052;178783051;178783050 | chr2:179647779;179647778;179647777 |
| N2A | 952 | 3079;3080;3081 | chr2:178783052;178783051;178783050 | chr2:179647779;179647778;179647777 |
| N2B | 906 | 2941;2942;2943 | chr2:178783052;178783051;178783050 | chr2:179647779;179647778;179647777 |
| Novex-1 | 906 | 2941;2942;2943 | chr2:178783052;178783051;178783050 | chr2:179647779;179647778;179647777 |
| Novex-2 | 906 | 2941;2942;2943 | chr2:178783052;178783051;178783050 | chr2:179647779;179647778;179647777 |
| Novex-3 | 952 | 3079;3080;3081 | chr2:178783052;178783051;178783050 | chr2:179647779;179647778;179647777 |
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/L | rs373848402  |
-0.359 | 0.001 | N | 0.098 | 0.179 | 0.420570264827 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 1.92184E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs373848402 |
-0.359 | 0.001 | N | 0.098 | 0.179 | 0.420570264827 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 1.44851E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs373848402 |
-0.359 | 0.001 | N | 0.098 | 0.179 | 0.420570264827 | gnomAD-4.0.0 | 6.84097E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99321E-07 | 0 | 0 |
| V/M | None | None | 0.015 | N | 0.283 | 0.135 | 0.432716982437 | gnomAD-4.0.0 | 6.84097E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 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 | 0.4489 | ambiguous | 0.4363 | ambiguous | -1.206 | Destabilizing | 0.09 | N | 0.337 | neutral | N | 0.490906693 | None | None | N |
| V/C | 0.9338 | likely_pathogenic | 0.9329 | pathogenic | -0.901 | Destabilizing | 0.981 | D | 0.385 | neutral | None | None | None | None | N |
| V/D | 0.8516 | likely_pathogenic | 0.8439 | pathogenic | -1.09 | Destabilizing | 0.69 | D | 0.503 | neutral | None | None | None | None | N |
| V/E | 0.5758 | likely_pathogenic | 0.5621 | ambiguous | -1.119 | Destabilizing | 0.193 | N | 0.455 | neutral | D | 0.52696917 | None | None | N |
| V/F | 0.506 | ambiguous | 0.4699 | ambiguous | -1.002 | Destabilizing | 0.69 | D | 0.422 | neutral | None | None | None | None | N |
| V/G | 0.7426 | likely_pathogenic | 0.7403 | pathogenic | -1.488 | Destabilizing | 0.324 | N | 0.487 | neutral | D | 0.584919162 | None | None | N |
| V/H | 0.8794 | likely_pathogenic | 0.8631 | pathogenic | -1.081 | Destabilizing | 0.981 | D | 0.477 | neutral | None | None | None | None | N |
| V/I | 0.1061 | likely_benign | 0.1013 | benign | -0.552 | Destabilizing | 0.002 | N | 0.162 | neutral | None | None | None | None | N |
| V/K | 0.5106 | ambiguous | 0.4877 | ambiguous | -1.18 | Destabilizing | 0.002 | N | 0.359 | neutral | None | None | None | None | N |
| V/L | 0.3872 | ambiguous | 0.4897 | ambiguous | -0.552 | Destabilizing | 0.001 | N | 0.098 | neutral | N | 0.494583013 | None | None | N |
| V/M | 0.1787 | likely_benign | 0.1636 | benign | -0.461 | Destabilizing | 0.015 | N | 0.283 | neutral | N | 0.502252854 | None | None | N |
| V/N | 0.7581 | likely_pathogenic | 0.7345 | pathogenic | -0.925 | Destabilizing | 0.69 | D | 0.499 | neutral | None | None | None | None | N |
| V/P | 0.9958 | likely_pathogenic | 0.9962 | pathogenic | -0.734 | Destabilizing | 0.818 | D | 0.462 | neutral | None | None | None | None | N |
| V/Q | 0.5255 | ambiguous | 0.4992 | ambiguous | -1.097 | Destabilizing | 0.69 | D | 0.465 | neutral | None | None | None | None | N |
| V/R | 0.5396 | ambiguous | 0.5227 | ambiguous | -0.652 | Destabilizing | 0.527 | D | 0.507 | neutral | None | None | None | None | N |
| V/S | 0.6434 | likely_pathogenic | 0.6192 | pathogenic | -1.372 | Destabilizing | 0.241 | N | 0.46 | neutral | None | None | None | None | N |
| V/T | 0.3169 | likely_benign | 0.2984 | benign | -1.288 | Destabilizing | 0.008 | N | 0.223 | neutral | None | None | None | None | N |
| V/W | 0.9747 | likely_pathogenic | 0.973 | pathogenic | -1.178 | Destabilizing | 0.981 | D | 0.519 | neutral | None | None | None | None | N |
| V/Y | 0.886 | likely_pathogenic | 0.8741 | pathogenic | -0.892 | Destabilizing | 0.818 | D | 0.409 | 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.