Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15662 | 47209;47210;47211 | chr2:178618474;178618473;178618472 | chr2:179483201;179483200;179483199 |
| N2AB | 14021 | 42286;42287;42288 | chr2:178618474;178618473;178618472 | chr2:179483201;179483200;179483199 |
| N2A | 13094 | 39505;39506;39507 | chr2:178618474;178618473;178618472 | chr2:179483201;179483200;179483199 |
| N2B | 6597 | 20014;20015;20016 | chr2:178618474;178618473;178618472 | chr2:179483201;179483200;179483199 |
| Novex-1 | 6722 | 20389;20390;20391 | chr2:178618474;178618473;178618472 | chr2:179483201;179483200;179483199 |
| Novex-2 | 6789 | 20590;20591;20592 | chr2:178618474;178618473;178618472 | chr2:179483201;179483200;179483199 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs762723635  |
-0.574 | 1.0 | D | 0.554 | 0.286 | 0.347879110917 | gnomAD-2.1.1 | 1.08E-05 | None | None | None | None | N | None | 4.14E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| R/C | rs762723635 |
-0.574 | 1.0 | D | 0.554 | 0.286 | 0.347879110917 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 7.25E-05 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/C | rs762723635 |
-0.574 | 1.0 | D | 0.554 | 0.286 | 0.347879110917 | gnomAD-4.0.0 | 8.68395E-06 | None | None | None | None | N | None | 8.02332E-05 | 1.67146E-05 | None | 0 | 0 | None | 0 | 0 | 5.93706E-06 | 0 | 0 |
| R/H | rs1457971549 |
-1.46 | 0.998 | N | 0.451 | 0.294 | 0.387850303812 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| R/H | rs1457971549 |
-1.46 | 0.998 | N | 0.451 | 0.294 | 0.387850303812 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.31251E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| R/H | rs1457971549 |
-1.46 | 0.998 | N | 0.451 | 0.294 | 0.387850303812 | gnomAD-4.0.0 | 6.2026E-06 | None | None | None | None | N | None | 0 | 3.34247E-05 | None | 0 | 4.48129E-05 | None | 1.56265E-05 | 0 | 3.39253E-06 | 1.09871E-05 | 0 |
| R/S | None | None | 0.967 | N | 0.429 | 0.202 | 0.337135696972 | gnomAD-4.0.0 | 6.84798E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99981E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.268 | likely_benign | 0.4046 | ambiguous | -0.536 | Destabilizing | 0.863 | D | 0.428 | neutral | None | None | None | None | N |
| R/C | 0.1378 | likely_benign | 0.2003 | benign | -0.468 | Destabilizing | 1.0 | D | 0.554 | neutral | D | 0.523364548 | None | None | N |
| R/D | 0.6714 | likely_pathogenic | 0.7901 | pathogenic | 0.045 | Stabilizing | 0.939 | D | 0.521 | neutral | None | None | None | None | N |
| R/E | 0.2522 | likely_benign | 0.3349 | benign | 0.193 | Stabilizing | 0.759 | D | 0.389 | neutral | None | None | None | None | N |
| R/F | 0.5704 | likely_pathogenic | 0.7108 | pathogenic | -0.216 | Destabilizing | 0.997 | D | 0.524 | neutral | None | None | None | None | N |
| R/G | 0.21 | likely_benign | 0.3341 | benign | -0.873 | Destabilizing | 0.983 | D | 0.489 | neutral | N | 0.402236625 | None | None | N |
| R/H | 0.1329 | likely_benign | 0.1692 | benign | -1.265 | Destabilizing | 0.998 | D | 0.451 | neutral | N | 0.52199853 | None | None | N |
| R/I | 0.2388 | likely_benign | 0.3181 | benign | 0.374 | Stabilizing | 0.997 | D | 0.545 | neutral | None | None | None | None | N |
| R/K | 0.0882 | likely_benign | 0.1098 | benign | -0.547 | Destabilizing | 0.079 | N | 0.09 | neutral | None | None | None | None | N |
| R/L | 0.1961 | likely_benign | 0.2736 | benign | 0.374 | Stabilizing | 0.983 | D | 0.489 | neutral | N | 0.482562116 | None | None | N |
| R/M | 0.2401 | likely_benign | 0.3287 | benign | -0.116 | Destabilizing | 0.997 | D | 0.495 | neutral | None | None | None | None | N |
| R/N | 0.4715 | ambiguous | 0.5978 | pathogenic | -0.14 | Destabilizing | 0.969 | D | 0.42 | neutral | None | None | None | None | N |
| R/P | 0.8829 | likely_pathogenic | 0.9147 | pathogenic | 0.093 | Stabilizing | 0.998 | D | 0.507 | neutral | N | 0.484365919 | None | None | N |
| R/Q | 0.0756 | likely_benign | 0.0937 | benign | -0.184 | Destabilizing | 0.373 | N | 0.222 | neutral | None | None | None | None | N |
| R/S | 0.3773 | ambiguous | 0.5274 | ambiguous | -0.793 | Destabilizing | 0.967 | D | 0.429 | neutral | N | 0.47599173 | None | None | N |
| R/T | 0.178 | likely_benign | 0.2564 | benign | -0.453 | Destabilizing | 0.969 | D | 0.443 | neutral | None | None | None | None | N |
| R/V | 0.2633 | likely_benign | 0.3595 | ambiguous | 0.093 | Stabilizing | 0.969 | D | 0.519 | neutral | None | None | None | None | N |
| R/W | 0.2641 | likely_benign | 0.3492 | ambiguous | 0.066 | Stabilizing | 0.999 | D | 0.598 | neutral | None | None | None | None | N |
| R/Y | 0.396 | ambiguous | 0.5253 | ambiguous | 0.349 | Stabilizing | 0.997 | D | 0.529 | 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.