Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20273 | 61042;61043;61044 | chr2:178590908;178590907;178590906 | chr2:179455635;179455634;179455633 |
| N2AB | 18632 | 56119;56120;56121 | chr2:178590908;178590907;178590906 | chr2:179455635;179455634;179455633 |
| N2A | 17705 | 53338;53339;53340 | chr2:178590908;178590907;178590906 | chr2:179455635;179455634;179455633 |
| N2B | 11208 | 33847;33848;33849 | chr2:178590908;178590907;178590906 | chr2:179455635;179455634;179455633 |
| Novex-1 | 11333 | 34222;34223;34224 | chr2:178590908;178590907;178590906 | chr2:179455635;179455634;179455633 |
| Novex-2 | 11400 | 34423;34424;34425 | chr2:178590908;178590907;178590906 | chr2:179455635;179455634;179455633 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs72646844  |
-1.021 | 0.998 | N | 0.821 | 0.421 | 0.575848135552 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| S/F | rs72646844 |
-1.021 | 0.998 | N | 0.821 | 0.421 | 0.575848135552 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| S/F | rs72646844 |
-1.021 | 0.998 | N | 0.821 | 0.421 | 0.575848135552 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| S/F | rs72646844 |
-1.021 | 0.998 | N | 0.821 | 0.421 | 0.575848135552 | gnomAD-4.0.0 | 3.10079E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48326E-07 | 4.39483E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1293 | likely_benign | 0.1348 | benign | -0.697 | Destabilizing | 0.835 | D | 0.637 | neutral | N | 0.501746841 | None | None | N |
| S/C | 0.1685 | likely_benign | 0.1751 | benign | -0.56 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.487318036 | None | None | N |
| S/D | 0.3267 | likely_benign | 0.3296 | benign | -0.626 | Destabilizing | 0.092 | N | 0.423 | neutral | None | None | None | None | N |
| S/E | 0.5999 | likely_pathogenic | 0.596 | pathogenic | -0.626 | Destabilizing | 0.942 | D | 0.648 | neutral | None | None | None | None | N |
| S/F | 0.34 | ambiguous | 0.3419 | ambiguous | -0.918 | Destabilizing | 0.998 | D | 0.821 | deleterious | N | 0.487064546 | None | None | N |
| S/G | 0.081 | likely_benign | 0.0837 | benign | -0.943 | Destabilizing | 0.092 | N | 0.398 | neutral | None | None | None | None | N |
| S/H | 0.5435 | ambiguous | 0.5451 | ambiguous | -1.511 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| S/I | 0.455 | ambiguous | 0.436 | ambiguous | -0.149 | Destabilizing | 0.999 | D | 0.822 | deleterious | None | None | None | None | N |
| S/K | 0.8839 | likely_pathogenic | 0.8806 | pathogenic | -0.762 | Destabilizing | 0.985 | D | 0.681 | prob.neutral | None | None | None | None | N |
| S/L | 0.1524 | likely_benign | 0.1547 | benign | -0.149 | Destabilizing | 0.996 | D | 0.815 | deleterious | None | None | None | None | N |
| S/M | 0.3248 | likely_benign | 0.3126 | benign | 0.195 | Stabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| S/N | 0.2178 | likely_benign | 0.2272 | benign | -0.762 | Destabilizing | 0.97 | D | 0.661 | neutral | None | None | None | None | N |
| S/P | 0.7919 | likely_pathogenic | 0.7756 | pathogenic | -0.298 | Destabilizing | 0.998 | D | 0.755 | deleterious | N | 0.482248245 | None | None | N |
| S/Q | 0.7127 | likely_pathogenic | 0.7074 | pathogenic | -0.955 | Destabilizing | 0.996 | D | 0.681 | prob.neutral | None | None | None | None | N |
| S/R | 0.8725 | likely_pathogenic | 0.8783 | pathogenic | -0.669 | Destabilizing | 0.996 | D | 0.745 | deleterious | None | None | None | None | N |
| S/T | 0.1347 | likely_benign | 0.138 | benign | -0.731 | Destabilizing | 0.98 | D | 0.649 | neutral | N | 0.476043107 | None | None | N |
| S/V | 0.423 | ambiguous | 0.3954 | ambiguous | -0.298 | Destabilizing | 0.999 | D | 0.8 | deleterious | None | None | None | None | N |
| S/W | 0.5621 | ambiguous | 0.5953 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| S/Y | 0.3299 | likely_benign | 0.335 | benign | -0.628 | Destabilizing | 0.998 | D | 0.837 | deleterious | N | 0.486811057 | 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.