Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22792 | 68599;68600;68601 | chr2:178578141;178578140;178578139 | chr2:179442868;179442867;179442866 |
| N2AB | 21151 | 63676;63677;63678 | chr2:178578141;178578140;178578139 | chr2:179442868;179442867;179442866 |
| N2A | 20224 | 60895;60896;60897 | chr2:178578141;178578140;178578139 | chr2:179442868;179442867;179442866 |
| N2B | 13727 | 41404;41405;41406 | chr2:178578141;178578140;178578139 | chr2:179442868;179442867;179442866 |
| Novex-1 | 13852 | 41779;41780;41781 | chr2:178578141;178578140;178578139 | chr2:179442868;179442867;179442866 |
| Novex-2 | 13919 | 41980;41981;41982 | chr2:178578141;178578140;178578139 | chr2:179442868;179442867;179442866 |
| 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/K | rs749459226  |
None | 0.025 | N | 0.243 | 0.152 | 0.143124449307 | gnomAD-4.0.0 | 6.84502E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99747E-07 | 0 | 0 |
| R/S | None | None | 0.892 | N | 0.653 | 0.284 | 0.243972157842 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 0 | 0 |
| R/T | rs749459226 |
-0.455 | 0.967 | N | 0.684 | 0.427 | None | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| R/T | rs749459226 |
-0.455 | 0.967 | N | 0.684 | 0.427 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/T | rs749459226 |
-0.455 | 0.967 | N | 0.684 | 0.427 | None | gnomAD-4.0.0 | 3.09983E-06 | None | None | None | None | N | None | 1.33576E-05 | 1.668E-05 | None | 0 | 2.23184E-05 | None | 0 | 0 | 8.47889E-07 | 1.09837E-05 | 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 | 0.758 | likely_pathogenic | 0.7345 | pathogenic | -0.498 | Destabilizing | 0.845 | D | 0.564 | neutral | None | None | None | None | N |
| R/C | 0.4172 | ambiguous | 0.4179 | ambiguous | -0.193 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | None | None | None | None | N |
| R/D | 0.9445 | likely_pathogenic | 0.9459 | pathogenic | -0.033 | Destabilizing | 0.975 | D | 0.721 | prob.delet. | None | None | None | None | N |
| R/E | 0.7194 | likely_pathogenic | 0.7137 | pathogenic | 0.098 | Stabilizing | 0.845 | D | 0.493 | neutral | None | None | None | None | N |
| R/F | 0.8795 | likely_pathogenic | 0.872 | pathogenic | -0.206 | Destabilizing | 0.996 | D | 0.735 | prob.delet. | None | None | None | None | N |
| R/G | 0.7206 | likely_pathogenic | 0.7043 | pathogenic | -0.835 | Destabilizing | 0.892 | D | 0.615 | neutral | N | 0.518500231 | None | None | N |
| R/H | 0.2578 | likely_benign | 0.2535 | benign | -1.356 | Destabilizing | 0.987 | D | 0.656 | neutral | None | None | None | None | N |
| R/I | 0.5654 | likely_pathogenic | 0.5672 | pathogenic | 0.413 | Stabilizing | 0.983 | D | 0.75 | deleterious | N | 0.493084499 | None | None | N |
| R/K | 0.1407 | likely_benign | 0.1716 | benign | -0.573 | Destabilizing | 0.025 | N | 0.243 | neutral | N | 0.389053267 | None | None | N |
| R/L | 0.5081 | ambiguous | 0.4793 | ambiguous | 0.413 | Stabilizing | 0.916 | D | 0.615 | neutral | None | None | None | None | N |
| R/M | 0.5222 | ambiguous | 0.5285 | ambiguous | 0.093 | Stabilizing | 0.999 | D | 0.717 | prob.delet. | None | None | None | None | N |
| R/N | 0.8859 | likely_pathogenic | 0.8915 | pathogenic | 0.005 | Stabilizing | 0.975 | D | 0.599 | neutral | None | None | None | None | N |
| R/P | 0.6966 | likely_pathogenic | 0.639 | pathogenic | 0.131 | Stabilizing | 0.987 | D | 0.755 | deleterious | None | None | None | None | N |
| R/Q | 0.2044 | likely_benign | 0.2012 | benign | -0.078 | Destabilizing | 0.975 | D | 0.596 | neutral | None | None | None | None | N |
| R/S | 0.8869 | likely_pathogenic | 0.8826 | pathogenic | -0.593 | Destabilizing | 0.892 | D | 0.653 | neutral | N | 0.485521021 | None | None | N |
| R/T | 0.5843 | likely_pathogenic | 0.5856 | pathogenic | -0.281 | Destabilizing | 0.967 | D | 0.684 | prob.neutral | N | 0.465415108 | None | None | N |
| R/V | 0.6161 | likely_pathogenic | 0.602 | pathogenic | 0.131 | Stabilizing | 0.975 | D | 0.74 | deleterious | None | None | None | None | N |
| R/W | 0.4712 | ambiguous | 0.4713 | ambiguous | 0.064 | Stabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| R/Y | 0.7316 | likely_pathogenic | 0.7283 | pathogenic | 0.346 | Stabilizing | 0.996 | D | 0.742 | 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.