Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4782 | 14569;14570;14571 | chr2:178738109;178738108;178738107 | chr2:179602836;179602835;179602834 |
| N2AB | 4465 | 13618;13619;13620 | chr2:178738109;178738108;178738107 | chr2:179602836;179602835;179602834 |
| N2A | 3538 | 10837;10838;10839 | chr2:178738109;178738108;178738107 | chr2:179602836;179602835;179602834 |
| N2B | 4419 | 13480;13481;13482 | chr2:178738109;178738108;178738107 | chr2:179602836;179602835;179602834 |
| Novex-1 | 4544 | 13855;13856;13857 | chr2:178738109;178738108;178738107 | chr2:179602836;179602835;179602834 |
| Novex-2 | 4611 | 14056;14057;14058 | chr2:178738109;178738108;178738107 | chr2:179602836;179602835;179602834 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | 0.994 | D | 0.461 | 0.321 | 0.505211317368 | gnomAD-4.0.0 | 1.50542E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.97902E-05 | 0 | 0 |
| S/N | rs281864908  |
None | 0.994 | N | 0.478 | 0.2 | 0.445210270852 | gnomAD-4.0.0 | 6.843E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99573E-07 | 0 | 0 |
| S/T | rs281864908 |
-0.225 | 0.994 | N | 0.439 | 0.171 | 0.381916209588 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/T | rs281864908 |
-0.225 | 0.994 | N | 0.439 | 0.171 | 0.381916209588 | gnomAD-4.0.0 | 6.843E-07 | None | None | None | None | N | None | 0 | 2.23644E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1081 | likely_benign | 0.1275 | benign | -0.422 | Destabilizing | 0.98 | D | 0.437 | neutral | None | None | None | None | N |
| S/C | 0.203 | likely_benign | 0.2357 | benign | -0.278 | Destabilizing | 1.0 | D | 0.661 | neutral | D | 0.656042232 | None | None | N |
| S/D | 0.6145 | likely_pathogenic | 0.7286 | pathogenic | 0.033 | Stabilizing | 0.983 | D | 0.43 | neutral | None | None | None | None | N |
| S/E | 0.6526 | likely_pathogenic | 0.7584 | pathogenic | -0.057 | Destabilizing | 0.611 | D | 0.334 | neutral | None | None | None | None | N |
| S/F | 0.252 | likely_benign | 0.3266 | benign | -0.969 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| S/G | 0.1901 | likely_benign | 0.2332 | benign | -0.549 | Destabilizing | 0.994 | D | 0.461 | neutral | D | 0.642605832 | None | None | N |
| S/H | 0.5484 | ambiguous | 0.6122 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| S/I | 0.2444 | likely_benign | 0.3076 | benign | -0.218 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | D | 0.570600278 | None | None | N |
| S/K | 0.8755 | likely_pathogenic | 0.9231 | pathogenic | -0.553 | Destabilizing | 0.992 | D | 0.425 | neutral | None | None | None | None | N |
| S/L | 0.1372 | likely_benign | 0.1707 | benign | -0.218 | Destabilizing | 0.999 | D | 0.669 | neutral | None | None | None | None | N |
| S/M | 0.2888 | likely_benign | 0.32 | benign | 0.055 | Stabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| S/N | 0.2591 | likely_benign | 0.32 | benign | -0.259 | Destabilizing | 0.994 | D | 0.478 | neutral | N | 0.515541726 | None | None | N |
| S/P | 0.7832 | likely_pathogenic | 0.8345 | pathogenic | -0.256 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| S/Q | 0.6824 | likely_pathogenic | 0.7441 | pathogenic | -0.52 | Destabilizing | 0.998 | D | 0.519 | neutral | None | None | None | None | N |
| S/R | 0.8049 | likely_pathogenic | 0.8754 | pathogenic | -0.322 | Destabilizing | 0.997 | D | 0.701 | prob.neutral | N | 0.50787821 | None | None | N |
| S/T | 0.0944 | likely_benign | 0.0954 | benign | -0.356 | Destabilizing | 0.994 | D | 0.439 | neutral | N | 0.490281746 | None | None | N |
| S/V | 0.2496 | likely_benign | 0.2986 | benign | -0.256 | Destabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | N |
| S/W | 0.4873 | ambiguous | 0.5637 | ambiguous | -0.966 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| S/Y | 0.2831 | likely_benign | 0.3395 | benign | -0.696 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | 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.