Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3254 | 9985;9986;9987 | chr2:178764755;178764754;178764753 | chr2:179629482;179629481;179629480 |
| N2AB | 3254 | 9985;9986;9987 | chr2:178764755;178764754;178764753 | chr2:179629482;179629481;179629480 |
| N2A | 3254 | 9985;9986;9987 | chr2:178764755;178764754;178764753 | chr2:179629482;179629481;179629480 |
| N2B | 3208 | 9847;9848;9849 | chr2:178764755;178764754;178764753 | chr2:179629482;179629481;179629480 |
| Novex-1 | 3208 | 9847;9848;9849 | chr2:178764755;178764754;178764753 | chr2:179629482;179629481;179629480 |
| Novex-2 | 3208 | 9847;9848;9849 | chr2:178764755;178764754;178764753 | chr2:179629482;179629481;179629480 |
| Novex-3 | 3254 | 9985;9986;9987 | chr2:178764755;178764754;178764753 | chr2:179629482;179629481;179629480 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | None | None | 0.767 | N | 0.272 | 0.274 | 0.304108284078 | gnomAD-4.0.0 | 1.59091E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77362E-05 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | rs766499138  |
-0.456 | 0.999 | N | 0.589 | 0.585 | 0.514358602855 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.6315 | likely_pathogenic | 0.8555 | pathogenic | -0.166 | Destabilizing | 0.997 | D | 0.49 | neutral | None | None | None | None | N |
| K/C | 0.8284 | likely_pathogenic | 0.9364 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| K/D | 0.8567 | likely_pathogenic | 0.9579 | pathogenic | 0.097 | Stabilizing | 0.994 | D | 0.546 | neutral | None | None | None | None | N |
| K/E | 0.2928 | likely_benign | 0.6365 | pathogenic | 0.134 | Stabilizing | 0.767 | D | 0.272 | neutral | N | 0.458746879 | None | None | N |
| K/F | 0.8572 | likely_pathogenic | 0.9556 | pathogenic | -0.175 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| K/G | 0.7427 | likely_pathogenic | 0.9066 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.579 | neutral | None | None | None | None | N |
| K/H | 0.4244 | ambiguous | 0.6282 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.609 | neutral | None | None | None | None | N |
| K/I | 0.5608 | ambiguous | 0.795 | pathogenic | 0.485 | Stabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| K/L | 0.4797 | ambiguous | 0.7304 | pathogenic | 0.485 | Stabilizing | 1.0 | D | 0.589 | neutral | None | None | None | None | N |
| K/M | 0.3272 | likely_benign | 0.5671 | pathogenic | 0.35 | Stabilizing | 1.0 | D | 0.615 | neutral | D | 0.522564685 | None | None | N |
| K/N | 0.6162 | likely_pathogenic | 0.8386 | pathogenic | 0.103 | Stabilizing | 0.999 | D | 0.607 | neutral | N | 0.513388799 | None | None | N |
| K/P | 0.9875 | likely_pathogenic | 0.9961 | pathogenic | 0.298 | Stabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| K/Q | 0.1441 | likely_benign | 0.2903 | benign | -0.072 | Destabilizing | 0.999 | D | 0.602 | neutral | N | 0.488247068 | None | None | N |
| K/R | 0.1103 | likely_benign | 0.1378 | benign | -0.218 | Destabilizing | 0.996 | D | 0.482 | neutral | N | 0.510716606 | None | None | N |
| K/S | 0.6416 | likely_pathogenic | 0.8658 | pathogenic | -0.469 | Destabilizing | 0.997 | D | 0.511 | neutral | None | None | None | None | N |
| K/T | 0.4132 | ambiguous | 0.7019 | pathogenic | -0.26 | Destabilizing | 0.999 | D | 0.589 | neutral | N | 0.517359455 | None | None | N |
| K/V | 0.5478 | ambiguous | 0.7771 | pathogenic | 0.298 | Stabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| K/W | 0.8907 | likely_pathogenic | 0.965 | pathogenic | -0.107 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| K/Y | 0.7345 | likely_pathogenic | 0.8847 | pathogenic | 0.213 | Stabilizing | 1.0 | D | 0.681 | prob.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.