Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28702 | 86329;86330;86331 | chr2:178560028;178560027;178560026 | chr2:179424755;179424754;179424753 |
| N2AB | 27061 | 81406;81407;81408 | chr2:178560028;178560027;178560026 | chr2:179424755;179424754;179424753 |
| N2A | 26134 | 78625;78626;78627 | chr2:178560028;178560027;178560026 | chr2:179424755;179424754;179424753 |
| N2B | 19637 | 59134;59135;59136 | chr2:178560028;178560027;178560026 | chr2:179424755;179424754;179424753 |
| Novex-1 | 19762 | 59509;59510;59511 | chr2:178560028;178560027;178560026 | chr2:179424755;179424754;179424753 |
| Novex-2 | 19829 | 59710;59711;59712 | chr2:178560028;178560027;178560026 | chr2:179424755;179424754;179424753 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | rs747739314  |
-0.545 | 0.036 | N | 0.213 | 0.066 | 0.388653054685 | gnomAD-2.1.1 | 1.08E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.36E-05 | 0 |
| I/L | rs747739314 |
-0.545 | 0.036 | N | 0.213 | 0.066 | 0.388653054685 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| I/L | rs747739314 |
-0.545 | 0.036 | N | 0.213 | 0.066 | 0.388653054685 | gnomAD-4.0.0 | 6.19726E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47596E-06 | 0 | 0 |
| I/S | None | None | 0.549 | N | 0.348 | 0.364 | 0.592197217354 | gnomAD-4.0.0 | 6.84245E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87441E-05 | 0 | 0 | 0 | 0 |
| I/T | None | None | 0.549 | N | 0.329 | 0.312 | 0.507928266286 | gnomAD-4.0.0 | 6.84245E-07 | None | None | None | None | N | None | 2.98757E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.2509 | likely_benign | 0.313 | benign | -1.67 | Destabilizing | 0.25 | N | 0.388 | neutral | None | None | None | None | N |
| I/C | 0.5826 | likely_pathogenic | 0.6314 | pathogenic | -1.356 | Destabilizing | 0.992 | D | 0.33 | neutral | None | None | None | None | N |
| I/D | 0.7436 | likely_pathogenic | 0.775 | pathogenic | -0.474 | Destabilizing | 0.972 | D | 0.441 | neutral | None | None | None | None | N |
| I/E | 0.616 | likely_pathogenic | 0.6301 | pathogenic | -0.423 | Destabilizing | 0.92 | D | 0.417 | neutral | None | None | None | None | N |
| I/F | 0.1397 | likely_benign | 0.1624 | benign | -1.11 | Destabilizing | 0.81 | D | 0.37 | neutral | N | 0.47478674 | None | None | N |
| I/G | 0.5517 | ambiguous | 0.6261 | pathogenic | -2.027 | Highly Destabilizing | 0.92 | D | 0.417 | neutral | None | None | None | None | N |
| I/H | 0.489 | ambiguous | 0.5236 | ambiguous | -1.14 | Destabilizing | 0.992 | D | 0.428 | neutral | None | None | None | None | N |
| I/K | 0.4235 | ambiguous | 0.4378 | ambiguous | -0.988 | Destabilizing | 0.85 | D | 0.42 | neutral | None | None | None | None | N |
| I/L | 0.1106 | likely_benign | 0.1143 | benign | -0.748 | Destabilizing | 0.036 | N | 0.213 | neutral | N | 0.443906472 | None | None | N |
| I/M | 0.1067 | likely_benign | 0.1166 | benign | -0.797 | Destabilizing | 0.036 | N | 0.251 | neutral | N | 0.478192404 | None | None | N |
| I/N | 0.3152 | likely_benign | 0.3333 | benign | -0.921 | Destabilizing | 0.896 | D | 0.44 | neutral | N | 0.40538537 | None | None | N |
| I/P | 0.7499 | likely_pathogenic | 0.7905 | pathogenic | -1.024 | Destabilizing | 0.972 | D | 0.45 | neutral | None | None | None | None | N |
| I/Q | 0.444 | ambiguous | 0.4626 | ambiguous | -0.982 | Destabilizing | 0.92 | D | 0.443 | neutral | None | None | None | None | N |
| I/R | 0.3398 | likely_benign | 0.3513 | ambiguous | -0.544 | Destabilizing | 0.85 | D | 0.443 | neutral | None | None | None | None | N |
| I/S | 0.2568 | likely_benign | 0.2973 | benign | -1.698 | Destabilizing | 0.549 | D | 0.348 | neutral | N | 0.394880374 | None | None | N |
| I/T | 0.2252 | likely_benign | 0.2627 | benign | -1.503 | Destabilizing | 0.549 | D | 0.329 | neutral | N | 0.384124663 | None | None | N |
| I/V | 0.0685 | likely_benign | 0.0735 | benign | -1.024 | Destabilizing | 0.001 | N | 0.105 | neutral | N | 0.396325956 | None | None | N |
| I/W | 0.7811 | likely_pathogenic | 0.8171 | pathogenic | -1.122 | Destabilizing | 0.992 | D | 0.474 | neutral | None | None | None | None | N |
| I/Y | 0.5345 | ambiguous | 0.5596 | ambiguous | -0.897 | Destabilizing | 0.92 | D | 0.359 | 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.