Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21218 | 63877;63878;63879 | chr2:178587657;178587656;178587655 | chr2:179452384;179452383;179452382 |
| N2AB | 19577 | 58954;58955;58956 | chr2:178587657;178587656;178587655 | chr2:179452384;179452383;179452382 |
| N2A | 18650 | 56173;56174;56175 | chr2:178587657;178587656;178587655 | chr2:179452384;179452383;179452382 |
| N2B | 12153 | 36682;36683;36684 | chr2:178587657;178587656;178587655 | chr2:179452384;179452383;179452382 |
| Novex-1 | 12278 | 37057;37058;37059 | chr2:178587657;178587656;178587655 | chr2:179452384;179452383;179452382 |
| Novex-2 | 12345 | 37258;37259;37260 | chr2:178587657;178587656;178587655 | chr2:179452384;179452383;179452382 |
| 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/G | rs778966200  |
-0.09 | 1.0 | N | 0.635 | 0.448 | 0.524792858863 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| R/G | rs778966200 |
-0.09 | 1.0 | N | 0.635 | 0.448 | 0.524792858863 | gnomAD-4.0.0 | 2.05372E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69916E-06 | 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 | 0.6136 | likely_pathogenic | 0.5906 | pathogenic | 0.095 | Stabilizing | 0.999 | D | 0.66 | neutral | None | None | None | None | N |
| R/C | 0.2849 | likely_benign | 0.2888 | benign | -0.124 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| R/D | 0.8084 | likely_pathogenic | 0.7935 | pathogenic | -0.232 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| R/E | 0.4991 | ambiguous | 0.4852 | ambiguous | -0.192 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | N |
| R/F | 0.7786 | likely_pathogenic | 0.7803 | pathogenic | -0.218 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| R/G | 0.4149 | ambiguous | 0.3967 | ambiguous | -0.046 | Destabilizing | 1.0 | D | 0.635 | neutral | N | 0.514953786 | None | None | N |
| R/H | 0.1814 | likely_benign | 0.183 | benign | -0.565 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| R/I | 0.5264 | ambiguous | 0.5125 | ambiguous | 0.421 | Stabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.497608974 | None | None | N |
| R/K | 0.1628 | likely_benign | 0.1602 | benign | -0.048 | Destabilizing | 0.997 | D | 0.585 | neutral | N | 0.513566919 | None | None | N |
| R/L | 0.4178 | ambiguous | 0.4024 | ambiguous | 0.421 | Stabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| R/M | 0.4934 | ambiguous | 0.4887 | ambiguous | -0.01 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| R/N | 0.7711 | likely_pathogenic | 0.7538 | pathogenic | 0.09 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| R/P | 0.6148 | likely_pathogenic | 0.5723 | pathogenic | 0.33 | Stabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| R/Q | 0.1431 | likely_benign | 0.1388 | benign | 0.038 | Stabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| R/S | 0.7021 | likely_pathogenic | 0.6861 | pathogenic | -0.096 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | N | 0.477646192 | None | None | N |
| R/T | 0.445 | ambiguous | 0.4222 | ambiguous | 0.049 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | N | 0.479571776 | None | None | N |
| R/V | 0.564 | ambiguous | 0.5569 | ambiguous | 0.33 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| R/W | 0.2854 | likely_benign | 0.295 | benign | -0.4 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| R/Y | 0.6103 | likely_pathogenic | 0.6186 | pathogenic | 0.01 | Stabilizing | 1.0 | D | 0.724 | 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.