Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33072 | 99439;99440;99441 | chr2:178538615;178538614;178538613 | chr2:179403342;179403341;179403340 |
| N2AB | 31431 | 94516;94517;94518 | chr2:178538615;178538614;178538613 | chr2:179403342;179403341;179403340 |
| N2A | 30504 | 91735;91736;91737 | chr2:178538615;178538614;178538613 | chr2:179403342;179403341;179403340 |
| N2B | 24007 | 72244;72245;72246 | chr2:178538615;178538614;178538613 | chr2:179403342;179403341;179403340 |
| Novex-1 | 24132 | 72619;72620;72621 | chr2:178538615;178538614;178538613 | chr2:179403342;179403341;179403340 |
| Novex-2 | 24199 | 72820;72821;72822 | chr2:178538615;178538614;178538613 | chr2:179403342;179403341;179403340 |
| 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 | rs1461001507  |
None | 1.0 | D | 0.728 | 0.58 | 0.6544345859 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/G | rs1461001507 |
None | 1.0 | D | 0.728 | 0.58 | 0.6544345859 | gnomAD-4.0.0 | 6.5703E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47007E-05 | 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 | 0.9795 | likely_pathogenic | 0.99 | pathogenic | -2.095 | Highly Destabilizing | 0.999 | D | 0.617 | neutral | None | None | None | None | N |
| R/C | 0.6997 | likely_pathogenic | 0.8551 | pathogenic | -2.003 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| R/D | 0.9972 | likely_pathogenic | 0.9987 | pathogenic | -1.541 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| R/E | 0.9712 | likely_pathogenic | 0.9857 | pathogenic | -1.307 | Destabilizing | 0.999 | D | 0.675 | prob.neutral | None | None | None | None | N |
| R/F | 0.9892 | likely_pathogenic | 0.996 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| R/G | 0.9777 | likely_pathogenic | 0.9899 | pathogenic | -2.432 | Highly Destabilizing | 1.0 | D | 0.728 | prob.delet. | D | 0.547729959 | None | None | N |
| R/H | 0.6091 | likely_pathogenic | 0.8149 | pathogenic | -1.932 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| R/I | 0.9528 | likely_pathogenic | 0.9802 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| R/K | 0.6072 | likely_pathogenic | 0.7809 | pathogenic | -1.331 | Destabilizing | 0.997 | D | 0.645 | neutral | N | 0.504618461 | None | None | N |
| R/L | 0.9166 | likely_pathogenic | 0.9651 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| R/M | 0.9659 | likely_pathogenic | 0.9894 | pathogenic | -1.617 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.521485403 | None | None | N |
| R/N | 0.9902 | likely_pathogenic | 0.9965 | pathogenic | -1.767 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| R/P | 0.9989 | likely_pathogenic | 0.9994 | pathogenic | -1.421 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| R/Q | 0.5775 | likely_pathogenic | 0.7753 | pathogenic | -1.498 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| R/S | 0.9836 | likely_pathogenic | 0.9935 | pathogenic | -2.482 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.5111886 | None | None | N |
| R/T | 0.9716 | likely_pathogenic | 0.9904 | pathogenic | -2.041 | Highly Destabilizing | 1.0 | D | 0.736 | prob.delet. | N | 0.506353208 | None | None | N |
| R/V | 0.9601 | likely_pathogenic | 0.9829 | pathogenic | -1.421 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| R/W | 0.8697 | likely_pathogenic | 0.9483 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.547983449 | None | None | N |
| R/Y | 0.9683 | likely_pathogenic | 0.9882 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.83 | deleterious | 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.