Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2410 | 7453;7454;7455 | chr2:178773940;178773939;178773938 | chr2:179638667;179638666;179638665 |
| N2AB | 2410 | 7453;7454;7455 | chr2:178773940;178773939;178773938 | chr2:179638667;179638666;179638665 |
| N2A | 2410 | 7453;7454;7455 | chr2:178773940;178773939;178773938 | chr2:179638667;179638666;179638665 |
| N2B | 2364 | 7315;7316;7317 | chr2:178773940;178773939;178773938 | chr2:179638667;179638666;179638665 |
| Novex-1 | 2364 | 7315;7316;7317 | chr2:178773940;178773939;178773938 | chr2:179638667;179638666;179638665 |
| Novex-2 | 2364 | 7315;7316;7317 | chr2:178773940;178773939;178773938 | chr2:179638667;179638666;179638665 |
| Novex-3 | 2410 | 7453;7454;7455 | chr2:178773940;178773939;178773938 | chr2:179638667;179638666;179638665 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/R | rs747828487  |
-1.117 | 0.98 | N | 0.675 | 0.745 | 0.500678981321 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.53E-05 | None | 0 | 0 | 0 |
| H/R | rs747828487 |
-1.117 | 0.98 | N | 0.675 | 0.745 | 0.500678981321 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.1425E-04 | 0 |
| H/R | rs747828487 |
-1.117 | 0.98 | N | 0.675 | 0.745 | 0.500678981321 | gnomAD-4.0.0 | 4.96938E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.49933E-07 | 6.59355E-05 | 1.60431E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.9045 | likely_pathogenic | 0.9023 | pathogenic | -2.026 | Highly Destabilizing | 0.985 | D | 0.727 | prob.delet. | None | None | None | None | N |
| H/C | 0.4756 | ambiguous | 0.4463 | ambiguous | -1.315 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| H/D | 0.9354 | likely_pathogenic | 0.9367 | pathogenic | -2.118 | Highly Destabilizing | 0.98 | D | 0.725 | prob.delet. | D | 0.639786988 | None | None | N |
| H/E | 0.9219 | likely_pathogenic | 0.9234 | pathogenic | -1.889 | Destabilizing | 0.971 | D | 0.653 | neutral | None | None | None | None | N |
| H/F | 0.675 | likely_pathogenic | 0.6607 | pathogenic | 0.04 | Stabilizing | 0.999 | D | 0.762 | deleterious | None | None | None | None | N |
| H/G | 0.9429 | likely_pathogenic | 0.9408 | pathogenic | -2.462 | Highly Destabilizing | 0.993 | D | 0.733 | prob.delet. | None | None | None | None | N |
| H/I | 0.8635 | likely_pathogenic | 0.8581 | pathogenic | -0.708 | Destabilizing | 0.999 | D | 0.807 | deleterious | None | None | None | None | N |
| H/K | 0.826 | likely_pathogenic | 0.8074 | pathogenic | -1.184 | Destabilizing | 0.971 | D | 0.719 | prob.delet. | None | None | None | None | N |
| H/L | 0.4967 | ambiguous | 0.4863 | ambiguous | -0.708 | Destabilizing | 0.997 | D | 0.78 | deleterious | D | 0.573673894 | None | None | N |
| H/M | 0.8792 | likely_pathogenic | 0.8765 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| H/N | 0.4572 | ambiguous | 0.4629 | ambiguous | -2.097 | Highly Destabilizing | 0.99 | D | 0.654 | neutral | D | 0.64026559 | None | None | N |
| H/P | 0.9777 | likely_pathogenic | 0.9796 | pathogenic | -1.142 | Destabilizing | 0.999 | D | 0.782 | deleterious | D | 0.641414632 | None | None | N |
| H/Q | 0.6343 | likely_pathogenic | 0.6275 | pathogenic | -1.641 | Destabilizing | 0.817 | D | 0.486 | neutral | D | 0.532215381 | None | None | N |
| H/R | 0.4463 | ambiguous | 0.4091 | ambiguous | -1.314 | Destabilizing | 0.98 | D | 0.675 | prob.neutral | N | 0.503524069 | None | None | N |
| H/S | 0.7952 | likely_pathogenic | 0.7924 | pathogenic | -2.274 | Highly Destabilizing | 0.985 | D | 0.717 | prob.delet. | None | None | None | None | N |
| H/T | 0.891 | likely_pathogenic | 0.8843 | pathogenic | -1.916 | Destabilizing | 0.998 | D | 0.753 | deleterious | None | None | None | None | N |
| H/V | 0.799 | likely_pathogenic | 0.7892 | pathogenic | -1.142 | Destabilizing | 0.998 | D | 0.789 | deleterious | None | None | None | None | N |
| H/W | 0.7425 | likely_pathogenic | 0.7287 | pathogenic | 0.691 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| H/Y | 0.2459 | likely_benign | 0.2393 | benign | 0.389 | Stabilizing | 0.997 | D | 0.668 | neutral | N | 0.493813693 | 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.