Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24763 | 74512;74513;74514 | chr2:178571845;178571844;178571843 | chr2:179436572;179436571;179436570 |
| N2AB | 23122 | 69589;69590;69591 | chr2:178571845;178571844;178571843 | chr2:179436572;179436571;179436570 |
| N2A | 22195 | 66808;66809;66810 | chr2:178571845;178571844;178571843 | chr2:179436572;179436571;179436570 |
| N2B | 15698 | 47317;47318;47319 | chr2:178571845;178571844;178571843 | chr2:179436572;179436571;179436570 |
| Novex-1 | 15823 | 47692;47693;47694 | chr2:178571845;178571844;178571843 | chr2:179436572;179436571;179436570 |
| Novex-2 | 15890 | 47893;47894;47895 | chr2:178571845;178571844;178571843 | chr2:179436572;179436571;179436570 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs749832389  |
0.024 | 0.067 | N | 0.314 | 0.083 | 0.104622674875 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| N/K | rs749832389 |
0.024 | 0.067 | N | 0.314 | 0.083 | 0.104622674875 | gnomAD-4.0.0 | 1.59171E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77408E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.4478 | ambiguous | 0.4018 | ambiguous | -0.659 | Destabilizing | 0.938 | D | 0.555 | neutral | None | None | None | None | N |
| N/C | 0.3849 | ambiguous | 0.3454 | ambiguous | -0.035 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| N/D | 0.3663 | ambiguous | 0.372 | ambiguous | -1.084 | Destabilizing | 0.958 | D | 0.441 | neutral | N | 0.495278343 | None | None | N |
| N/E | 0.6862 | likely_pathogenic | 0.6752 | pathogenic | -1.042 | Destabilizing | 0.938 | D | 0.464 | neutral | None | None | None | None | N |
| N/F | 0.5293 | ambiguous | 0.5109 | ambiguous | -0.78 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| N/G | 0.5488 | ambiguous | 0.508 | ambiguous | -0.921 | Destabilizing | 0.968 | D | 0.411 | neutral | None | None | None | None | N |
| N/H | 0.1291 | likely_benign | 0.1271 | benign | -0.85 | Destabilizing | 0.994 | D | 0.666 | neutral | D | 0.527403008 | None | None | N |
| N/I | 0.2732 | likely_benign | 0.2548 | benign | -0.024 | Destabilizing | 0.994 | D | 0.801 | deleterious | D | 0.536465209 | None | None | N |
| N/K | 0.5042 | ambiguous | 0.5094 | ambiguous | -0.153 | Destabilizing | 0.067 | N | 0.314 | neutral | N | 0.503080567 | None | None | N |
| N/L | 0.3038 | likely_benign | 0.2859 | benign | -0.024 | Destabilizing | 0.991 | D | 0.71 | prob.delet. | None | None | None | None | N |
| N/M | 0.3939 | ambiguous | 0.3667 | ambiguous | 0.582 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| N/P | 0.9576 | likely_pathogenic | 0.9558 | pathogenic | -0.207 | Destabilizing | 0.995 | D | 0.752 | deleterious | None | None | None | None | N |
| N/Q | 0.5099 | ambiguous | 0.4941 | ambiguous | -1.009 | Destabilizing | 0.991 | D | 0.669 | neutral | None | None | None | None | N |
| N/R | 0.4973 | ambiguous | 0.4888 | ambiguous | -0.002 | Destabilizing | 0.982 | D | 0.569 | neutral | None | None | None | None | N |
| N/S | 0.1295 | likely_benign | 0.1189 | benign | -0.701 | Destabilizing | 0.958 | D | 0.385 | neutral | N | 0.497656104 | None | None | N |
| N/T | 0.1912 | likely_benign | 0.1673 | benign | -0.5 | Destabilizing | 0.958 | D | 0.494 | neutral | N | 0.472299087 | None | None | N |
| N/V | 0.3056 | likely_benign | 0.2724 | benign | -0.207 | Destabilizing | 0.991 | D | 0.783 | deleterious | None | None | None | None | N |
| N/W | 0.8331 | likely_pathogenic | 0.8273 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| N/Y | 0.2277 | likely_benign | 0.2161 | benign | -0.329 | Destabilizing | 0.998 | D | 0.769 | deleterious | N | 0.508155585 | 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.