Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5224 | 15895;15896;15897 | chr2:178733719;178733718;178733717 | chr2:179598446;179598445;179598444 |
| N2AB | 4907 | 14944;14945;14946 | chr2:178733719;178733718;178733717 | chr2:179598446;179598445;179598444 |
| N2A | 3980 | 12163;12164;12165 | chr2:178733719;178733718;178733717 | chr2:179598446;179598445;179598444 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | rs773550460  |
-1.312 | None | N | 0.394 | 0.155 | 0.647529563541 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 1.85632E-04 | 0 | 1.65508E-04 |
| V/F | rs773550460 |
-1.312 | None | N | 0.394 | 0.155 | 0.647529563541 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 0 | 0 | 0 |
| V/F | rs773550460 |
-1.312 | None | N | 0.394 | 0.155 | 0.647529563541 | gnomAD-4.0.0 | 2.43391E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.8238E-04 | 0 | 0 | 0 | 2.84446E-05 |
| V/G | None | None | 0.055 | N | 0.462 | 0.107 | 0.58439663452 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-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 | 0.0928 | likely_benign | 0.1017 | benign | -1.778 | Destabilizing | 0.005 | N | 0.333 | neutral | N | 0.506712461 | None | None | N |
| V/C | 0.4849 | ambiguous | 0.5195 | ambiguous | -1.308 | Destabilizing | 0.676 | D | 0.54 | neutral | None | None | None | None | N |
| V/D | 0.1964 | likely_benign | 0.2147 | benign | -1.881 | Destabilizing | 0.055 | N | 0.538 | neutral | N | 0.498678418 | None | None | N |
| V/E | 0.138 | likely_benign | 0.1499 | benign | -1.767 | Destabilizing | 0.072 | N | 0.508 | neutral | None | None | None | None | N |
| V/F | 0.0957 | likely_benign | 0.102 | benign | -1.129 | Destabilizing | None | N | 0.394 | neutral | N | 0.507063442 | None | None | N |
| V/G | 0.1366 | likely_benign | 0.1577 | benign | -2.228 | Highly Destabilizing | 0.055 | N | 0.462 | neutral | N | 0.509272715 | None | None | N |
| V/H | 0.2589 | likely_benign | 0.2741 | benign | -1.848 | Destabilizing | 0.001 | N | 0.475 | neutral | None | None | None | None | N |
| V/I | 0.0674 | likely_benign | 0.0716 | benign | -0.583 | Destabilizing | 0.012 | N | 0.421 | neutral | N | 0.507429334 | None | None | N |
| V/K | 0.1702 | likely_benign | 0.1912 | benign | -1.446 | Destabilizing | 0.072 | N | 0.5 | neutral | None | None | None | None | N |
| V/L | 0.0993 | likely_benign | 0.1013 | benign | -0.583 | Destabilizing | None | N | 0.219 | neutral | N | 0.485742373 | None | None | N |
| V/M | 0.0746 | likely_benign | 0.0829 | benign | -0.545 | Destabilizing | 0.214 | N | 0.502 | neutral | None | None | None | None | N |
| V/N | 0.1215 | likely_benign | 0.1346 | benign | -1.459 | Destabilizing | 0.038 | N | 0.536 | neutral | None | None | None | None | N |
| V/P | 0.8599 | likely_pathogenic | 0.9164 | pathogenic | -0.949 | Destabilizing | 0.356 | N | 0.583 | neutral | None | None | None | None | N |
| V/Q | 0.1487 | likely_benign | 0.159 | benign | -1.469 | Destabilizing | 0.214 | N | 0.576 | neutral | None | None | None | None | N |
| V/R | 0.1542 | likely_benign | 0.1659 | benign | -1.107 | Destabilizing | 0.214 | N | 0.589 | neutral | None | None | None | None | N |
| V/S | 0.0916 | likely_benign | 0.1011 | benign | -2.082 | Highly Destabilizing | 0.001 | N | 0.396 | neutral | None | None | None | None | N |
| V/T | 0.076 | likely_benign | 0.0826 | benign | -1.838 | Destabilizing | None | N | 0.187 | neutral | None | None | None | None | N |
| V/W | 0.5474 | ambiguous | 0.6085 | pathogenic | -1.495 | Destabilizing | 0.864 | D | 0.593 | neutral | None | None | None | None | N |
| V/Y | 0.2755 | likely_benign | 0.3085 | benign | -1.142 | Destabilizing | 0.038 | N | 0.534 | 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.