Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16866 | 50821;50822;50823 | chr2:178611633;178611632;178611631 | chr2:179476360;179476359;179476358 |
| N2AB | 15225 | 45898;45899;45900 | chr2:178611633;178611632;178611631 | chr2:179476360;179476359;179476358 |
| N2A | 14298 | 43117;43118;43119 | chr2:178611633;178611632;178611631 | chr2:179476360;179476359;179476358 |
| N2B | 7801 | 23626;23627;23628 | chr2:178611633;178611632;178611631 | chr2:179476360;179476359;179476358 |
| Novex-1 | 7926 | 24001;24002;24003 | chr2:178611633;178611632;178611631 | chr2:179476360;179476359;179476358 |
| Novex-2 | 7993 | 24202;24203;24204 | chr2:178611633;178611632;178611631 | chr2:179476360;179476359;179476358 |
| 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 | rs774137928  |
-0.364 | 0.997 | N | 0.459 | 0.29 | 0.251116650651 | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 5.35E-05 | 0 |
| R/K | rs774137928 |
-0.364 | 0.997 | N | 0.459 | 0.29 | 0.251116650651 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.89E-05 | 0 | 0 |
| R/K | rs774137928 |
-0.364 | 0.997 | N | 0.459 | 0.29 | 0.251116650651 | gnomAD-4.0.0 | 1.67395E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.03499E-05 | 0 | 4.80677E-05 |
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 | 0.8121 | likely_pathogenic | 0.8358 | pathogenic | -0.247 | Destabilizing | 0.999 | D | 0.579 | neutral | None | None | None | None | N |
| R/C | 0.5155 | ambiguous | 0.4861 | ambiguous | -0.132 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| R/D | 0.9155 | likely_pathogenic | 0.9348 | pathogenic | 0.024 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| R/E | 0.6448 | likely_pathogenic | 0.7019 | pathogenic | 0.112 | Stabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | N |
| R/F | 0.9141 | likely_pathogenic | 0.9183 | pathogenic | -0.292 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| R/G | 0.6533 | likely_pathogenic | 0.679 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.477576525 | None | None | N |
| R/H | 0.3363 | likely_benign | 0.3187 | benign | -1.013 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| R/I | 0.6991 | likely_pathogenic | 0.7258 | pathogenic | 0.436 | Stabilizing | 1.0 | D | 0.751 | deleterious | D | 0.629493952 | None | None | N |
| R/K | 0.2411 | likely_benign | 0.2684 | benign | -0.248 | Destabilizing | 0.997 | D | 0.459 | neutral | N | 0.468271734 | None | None | N |
| R/L | 0.6269 | likely_pathogenic | 0.6459 | pathogenic | 0.436 | Stabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| R/M | 0.7163 | likely_pathogenic | 0.742 | pathogenic | 0.117 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| R/N | 0.8723 | likely_pathogenic | 0.898 | pathogenic | 0.255 | Stabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| R/P | 0.7656 | likely_pathogenic | 0.7749 | pathogenic | 0.231 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| R/Q | 0.2185 | likely_benign | 0.2182 | benign | 0.077 | Stabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| R/S | 0.8425 | likely_pathogenic | 0.8696 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.443354173 | None | None | N |
| R/T | 0.7289 | likely_pathogenic | 0.7688 | pathogenic | -0.046 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | N | 0.470718379 | None | None | N |
| R/V | 0.7758 | likely_pathogenic | 0.8041 | pathogenic | 0.231 | Stabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| R/W | 0.5468 | ambiguous | 0.4939 | ambiguous | -0.147 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| R/Y | 0.8181 | likely_pathogenic | 0.8173 | pathogenic | 0.217 | Stabilizing | 1.0 | D | 0.748 | 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.