Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30480 | 91663;91664;91665 | chr2:178551093;178551092;178551091 | chr2:179415820;179415819;179415818 |
| N2AB | 28839 | 86740;86741;86742 | chr2:178551093;178551092;178551091 | chr2:179415820;179415819;179415818 |
| N2A | 27912 | 83959;83960;83961 | chr2:178551093;178551092;178551091 | chr2:179415820;179415819;179415818 |
| N2B | 21415 | 64468;64469;64470 | chr2:178551093;178551092;178551091 | chr2:179415820;179415819;179415818 |
| Novex-1 | 21540 | 64843;64844;64845 | chr2:178551093;178551092;178551091 | chr2:179415820;179415819;179415818 |
| Novex-2 | 21607 | 65044;65045;65046 | chr2:178551093;178551092;178551091 | chr2:179415820;179415819;179415818 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs794729532  |
-0.845 | 0.999 | N | 0.669 | 0.32 | 0.277730125212 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Q/H | rs794729532 |
-0.845 | 0.999 | N | 0.669 | 0.32 | 0.277730125212 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/H | rs794729532 |
-0.845 | 0.999 | N | 0.669 | 0.32 | 0.277730125212 | gnomAD-4.0.0 | 2.47947E-06 | None | None | None | None | N | None | 1.3354E-05 | 3.33611E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60169E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.3374 | likely_benign | 0.3543 | ambiguous | -0.629 | Destabilizing | 0.997 | D | 0.487 | neutral | None | None | None | None | N |
| Q/C | 0.6341 | likely_pathogenic | 0.6393 | pathogenic | -0.072 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| Q/D | 0.7185 | likely_pathogenic | 0.7407 | pathogenic | -0.245 | Destabilizing | 0.997 | D | 0.495 | neutral | None | None | None | None | N |
| Q/E | 0.1132 | likely_benign | 0.12 | benign | -0.123 | Destabilizing | 0.992 | D | 0.373 | neutral | N | 0.397614035 | None | None | N |
| Q/F | 0.7562 | likely_pathogenic | 0.7625 | pathogenic | -0.24 | Destabilizing | 0.999 | D | 0.766 | deleterious | None | None | None | None | N |
| Q/G | 0.5305 | ambiguous | 0.5677 | pathogenic | -0.994 | Destabilizing | 0.997 | D | 0.628 | neutral | None | None | None | None | N |
| Q/H | 0.29 | likely_benign | 0.3045 | benign | -0.578 | Destabilizing | 0.999 | D | 0.669 | neutral | N | 0.458971925 | None | None | N |
| Q/I | 0.3745 | ambiguous | 0.3946 | ambiguous | 0.311 | Stabilizing | 0.999 | D | 0.761 | deleterious | None | None | None | None | N |
| Q/K | 0.1836 | likely_benign | 0.2012 | benign | -0.229 | Destabilizing | 0.997 | D | 0.41 | neutral | N | 0.441943603 | None | None | N |
| Q/L | 0.2015 | likely_benign | 0.2133 | benign | 0.311 | Stabilizing | 0.997 | D | 0.628 | neutral | N | 0.511496901 | None | None | N |
| Q/M | 0.3859 | ambiguous | 0.3967 | ambiguous | 0.511 | Stabilizing | 0.999 | D | 0.671 | neutral | None | None | None | None | N |
| Q/N | 0.4345 | ambiguous | 0.4456 | ambiguous | -0.831 | Destabilizing | 0.999 | D | 0.631 | neutral | None | None | None | None | N |
| Q/P | 0.8887 | likely_pathogenic | 0.9168 | pathogenic | 0.029 | Stabilizing | 0.999 | D | 0.739 | prob.delet. | N | 0.500453188 | None | None | N |
| Q/R | 0.1631 | likely_benign | 0.1803 | benign | -0.15 | Destabilizing | 0.997 | D | 0.471 | neutral | N | 0.431745252 | None | None | N |
| Q/S | 0.3299 | likely_benign | 0.3297 | benign | -0.978 | Destabilizing | 0.997 | D | 0.437 | neutral | None | None | None | None | N |
| Q/T | 0.2246 | likely_benign | 0.2301 | benign | -0.653 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | N |
| Q/V | 0.2603 | likely_benign | 0.2799 | benign | 0.029 | Stabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | N |
| Q/W | 0.7154 | likely_pathogenic | 0.7341 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| Q/Y | 0.5449 | ambiguous | 0.5729 | pathogenic | 0.116 | Stabilizing | 0.999 | D | 0.763 | 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.