Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14449 | 43570;43571;43572 | chr2:178632661;178632660;178632659 | chr2:179497388;179497387;179497386 |
| N2AB | 12808 | 38647;38648;38649 | chr2:178632661;178632660;178632659 | chr2:179497388;179497387;179497386 |
| N2A | 11881 | 35866;35867;35868 | chr2:178632661;178632660;178632659 | chr2:179497388;179497387;179497386 |
| N2B | 5384 | 16375;16376;16377 | chr2:178632661;178632660;178632659 | chr2:179497388;179497387;179497386 |
| Novex-1 | 5509 | 16750;16751;16752 | chr2:178632661;178632660;178632659 | chr2:179497388;179497387;179497386 |
| Novex-2 | 5576 | 16951;16952;16953 | chr2:178632661;178632660;178632659 | chr2:179497388;179497387;179497386 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1461692009  |
-0.233 | 0.029 | N | 0.351 | 0.176 | 0.151104730317 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1461692009 |
-0.233 | 0.029 | N | 0.351 | 0.176 | 0.151104730317 | gnomAD-4.0.0 | 3.18383E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77408E-05 | None | 0 | 0 | 0 | 0 | 3.02535E-05 |
| G/R | rs1485328319 |
None | 0.055 | N | 0.475 | 0.076 | 0.21737058555 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1485328319 |
None | 0.055 | N | 0.475 | 0.076 | 0.21737058555 | gnomAD-4.0.0 | 1.2397E-06 | None | None | None | None | N | None | 0 | 3.33622E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs1485328319 |
None | None | N | 0.139 | 0.106 | 0.0401082797425 | gnomAD-4.0.0 | 1.36866E-06 | None | None | None | None | N | None | 2.98954E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99619E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0929 | likely_benign | 0.0905 | benign | -0.209 | Destabilizing | None | N | 0.143 | neutral | N | 0.379208629 | None | None | N |
| G/C | 0.1471 | likely_benign | 0.1569 | benign | -0.86 | Destabilizing | 0.612 | D | 0.447 | neutral | N | 0.498404653 | None | None | N |
| G/D | 0.1544 | likely_benign | 0.1532 | benign | -0.297 | Destabilizing | 0.029 | N | 0.351 | neutral | N | 0.434072639 | None | None | N |
| G/E | 0.1549 | likely_benign | 0.1486 | benign | -0.447 | Destabilizing | 0.038 | N | 0.371 | neutral | None | None | None | None | N |
| G/F | 0.4647 | ambiguous | 0.4515 | ambiguous | -0.885 | Destabilizing | 0.356 | N | 0.478 | neutral | None | None | None | None | N |
| G/H | 0.2698 | likely_benign | 0.2673 | benign | -0.494 | Destabilizing | 0.356 | N | 0.438 | neutral | None | None | None | None | N |
| G/I | 0.2042 | likely_benign | 0.2021 | benign | -0.323 | Destabilizing | 0.214 | N | 0.507 | neutral | None | None | None | None | N |
| G/K | 0.2632 | likely_benign | 0.2429 | benign | -0.732 | Destabilizing | 0.038 | N | 0.369 | neutral | None | None | None | None | N |
| G/L | 0.2945 | likely_benign | 0.2847 | benign | -0.323 | Destabilizing | 0.072 | N | 0.453 | neutral | None | None | None | None | N |
| G/M | 0.3714 | ambiguous | 0.3589 | ambiguous | -0.481 | Destabilizing | 0.628 | D | 0.448 | neutral | None | None | None | None | N |
| G/N | 0.1941 | likely_benign | 0.2023 | benign | -0.409 | Destabilizing | None | N | 0.153 | neutral | None | None | None | None | N |
| G/P | 0.3465 | ambiguous | 0.3535 | ambiguous | -0.252 | Destabilizing | None | N | 0.229 | neutral | None | None | None | None | N |
| G/Q | 0.2448 | likely_benign | 0.2276 | benign | -0.636 | Destabilizing | 0.214 | N | 0.493 | neutral | None | None | None | None | N |
| G/R | 0.1671 | likely_benign | 0.1559 | benign | -0.374 | Destabilizing | 0.055 | N | 0.475 | neutral | N | 0.406170775 | None | None | N |
| G/S | 0.0736 | likely_benign | 0.075 | benign | -0.578 | Destabilizing | None | N | 0.139 | neutral | N | 0.364804788 | None | None | N |
| G/T | 0.1072 | likely_benign | 0.113 | benign | -0.648 | Destabilizing | 0.001 | N | 0.243 | neutral | None | None | None | None | N |
| G/V | 0.1428 | likely_benign | 0.139 | benign | -0.252 | Destabilizing | 0.029 | N | 0.463 | neutral | N | 0.404343484 | None | None | N |
| G/W | 0.3183 | likely_benign | 0.298 | benign | -1.069 | Destabilizing | 0.864 | D | 0.455 | neutral | None | None | None | None | N |
| G/Y | 0.3113 | likely_benign | 0.3139 | benign | -0.706 | Destabilizing | 0.356 | N | 0.478 | 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.