Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35336 | 106231;106232;106233 | chr2:178530609;178530608;178530607 | chr2:179395336;179395335;179395334 |
| N2AB | 33695 | 101308;101309;101310 | chr2:178530609;178530608;178530607 | chr2:179395336;179395335;179395334 |
| N2A | 32768 | 98527;98528;98529 | chr2:178530609;178530608;178530607 | chr2:179395336;179395335;179395334 |
| N2B | 26271 | 79036;79037;79038 | chr2:178530609;178530608;178530607 | chr2:179395336;179395335;179395334 |
| Novex-1 | 26396 | 79411;79412;79413 | chr2:178530609;178530608;178530607 | chr2:179395336;179395335;179395334 |
| Novex-2 | 26463 | 79612;79613;79614 | chr2:178530609;178530608;178530607 | chr2:179395336;179395335;179395334 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/D | rs935907208  |
None | 0.92 | D | 0.673 | 0.419 | 0.706786748322 | gnomAD-4.0.0 | 6.84139E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99394E-07 | 0 | 0 |
| Y/H | None | None | 0.035 | N | 0.275 | 0.256 | 0.298056030225 | gnomAD-4.0.0 | 6.84139E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99394E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.7167 | likely_pathogenic | 0.6013 | pathogenic | -0.688 | Destabilizing | 0.759 | D | 0.596 | neutral | None | None | None | None | N |
| Y/C | 0.2372 | likely_benign | 0.1921 | benign | 0.146 | Stabilizing | 0.999 | D | 0.671 | neutral | N | 0.511901341 | None | None | N |
| Y/D | 0.5932 | likely_pathogenic | 0.4221 | ambiguous | 0.699 | Stabilizing | 0.92 | D | 0.673 | neutral | D | 0.524207987 | None | None | N |
| Y/E | 0.8593 | likely_pathogenic | 0.7576 | pathogenic | 0.702 | Stabilizing | 0.884 | D | 0.621 | neutral | None | None | None | None | N |
| Y/F | 0.1458 | likely_benign | 0.1373 | benign | -0.299 | Destabilizing | 0.959 | D | 0.537 | neutral | N | 0.511913481 | None | None | N |
| Y/G | 0.6596 | likely_pathogenic | 0.5313 | ambiguous | -0.888 | Destabilizing | 0.939 | D | 0.615 | neutral | None | None | None | None | N |
| Y/H | 0.3445 | ambiguous | 0.2653 | benign | 0.122 | Stabilizing | 0.035 | N | 0.275 | neutral | N | 0.485149805 | None | None | N |
| Y/I | 0.6664 | likely_pathogenic | 0.5626 | ambiguous | -0.162 | Destabilizing | 0.991 | D | 0.649 | neutral | None | None | None | None | N |
| Y/K | 0.8135 | likely_pathogenic | 0.7048 | pathogenic | 0.172 | Stabilizing | 0.884 | D | 0.632 | neutral | None | None | None | None | N |
| Y/L | 0.606 | likely_pathogenic | 0.5221 | ambiguous | -0.162 | Destabilizing | 0.939 | D | 0.565 | neutral | None | None | None | None | N |
| Y/M | 0.84 | likely_pathogenic | 0.7834 | pathogenic | -0.148 | Destabilizing | 0.997 | D | 0.643 | neutral | None | None | None | None | N |
| Y/N | 0.3954 | ambiguous | 0.2945 | benign | -0.021 | Destabilizing | 0.92 | D | 0.659 | neutral | N | 0.51320156 | None | None | N |
| Y/P | 0.8759 | likely_pathogenic | 0.7439 | pathogenic | -0.321 | Destabilizing | 0.991 | D | 0.687 | prob.neutral | None | None | None | None | N |
| Y/Q | 0.7409 | likely_pathogenic | 0.6282 | pathogenic | 0.063 | Stabilizing | 0.373 | N | 0.373 | neutral | None | None | None | None | N |
| Y/R | 0.6297 | likely_pathogenic | 0.4947 | ambiguous | 0.328 | Stabilizing | 0.939 | D | 0.689 | prob.neutral | None | None | None | None | N |
| Y/S | 0.3487 | ambiguous | 0.2541 | benign | -0.401 | Destabilizing | 0.31 | N | 0.421 | neutral | N | 0.504659435 | None | None | N |
| Y/T | 0.6418 | likely_pathogenic | 0.5204 | ambiguous | -0.304 | Destabilizing | 0.884 | D | 0.628 | neutral | None | None | None | None | N |
| Y/V | 0.5673 | likely_pathogenic | 0.4672 | ambiguous | -0.321 | Destabilizing | 0.969 | D | 0.581 | neutral | None | None | None | None | N |
| Y/W | 0.6252 | likely_pathogenic | 0.5511 | ambiguous | -0.381 | Destabilizing | 0.999 | D | 0.615 | 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.