Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20219 | 60880;60881;60882 | chr2:178591070;178591069;178591068 | chr2:179455797;179455796;179455795 |
| N2AB | 18578 | 55957;55958;55959 | chr2:178591070;178591069;178591068 | chr2:179455797;179455796;179455795 |
| N2A | 17651 | 53176;53177;53178 | chr2:178591070;178591069;178591068 | chr2:179455797;179455796;179455795 |
| N2B | 11154 | 33685;33686;33687 | chr2:178591070;178591069;178591068 | chr2:179455797;179455796;179455795 |
| Novex-1 | 11279 | 34060;34061;34062 | chr2:178591070;178591069;178591068 | chr2:179455797;179455796;179455795 |
| Novex-2 | 11346 | 34261;34262;34263 | chr2:178591070;178591069;178591068 | chr2:179455797;179455796;179455795 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/L | rs372281297  |
-2.117 | 1.0 | N | 0.63 | 0.47 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9247 | likely_pathogenic | 0.945 | pathogenic | -2.734 | Highly Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| W/C | 0.9829 | likely_pathogenic | 0.9882 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.645 | neutral | N | 0.516037219 | None | None | N |
| W/D | 0.9904 | likely_pathogenic | 0.9939 | pathogenic | -0.768 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| W/E | 0.9901 | likely_pathogenic | 0.9935 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| W/F | 0.5472 | ambiguous | 0.5951 | pathogenic | -1.797 | Destabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| W/G | 0.8747 | likely_pathogenic | 0.9115 | pathogenic | -2.92 | Highly Destabilizing | 1.0 | D | 0.63 | neutral | D | 0.547117167 | None | None | N |
| W/H | 0.9758 | likely_pathogenic | 0.9806 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| W/I | 0.9454 | likely_pathogenic | 0.9602 | pathogenic | -2.094 | Highly Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| W/K | 0.9905 | likely_pathogenic | 0.9926 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| W/L | 0.8822 | likely_pathogenic | 0.9209 | pathogenic | -2.094 | Highly Destabilizing | 1.0 | D | 0.63 | neutral | N | 0.516896138 | None | None | N |
| W/M | 0.9653 | likely_pathogenic | 0.9738 | pathogenic | -1.53 | Destabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | N |
| W/N | 0.9895 | likely_pathogenic | 0.9925 | pathogenic | -1.271 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| W/P | 0.963 | likely_pathogenic | 0.9747 | pathogenic | -2.317 | Highly Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| W/Q | 0.9923 | likely_pathogenic | 0.9943 | pathogenic | -1.334 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| W/R | 0.9842 | likely_pathogenic | 0.9883 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | D | 0.524746951 | None | None | N |
| W/S | 0.9009 | likely_pathogenic | 0.9285 | pathogenic | -1.862 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | D | 0.54559623 | None | None | N |
| W/T | 0.9255 | likely_pathogenic | 0.9448 | pathogenic | -1.764 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| W/V | 0.9242 | likely_pathogenic | 0.9471 | pathogenic | -2.317 | Highly Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| W/Y | 0.8396 | likely_pathogenic | 0.8552 | pathogenic | -1.583 | Destabilizing | 1.0 | D | 0.565 | 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.