Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34397 | 103414;103415;103416 | chr2:178533426;178533425;178533424 | chr2:179398153;179398152;179398151 |
| N2AB | 32756 | 98491;98492;98493 | chr2:178533426;178533425;178533424 | chr2:179398153;179398152;179398151 |
| N2A | 31829 | 95710;95711;95712 | chr2:178533426;178533425;178533424 | chr2:179398153;179398152;179398151 |
| N2B | 25332 | 76219;76220;76221 | chr2:178533426;178533425;178533424 | chr2:179398153;179398152;179398151 |
| Novex-1 | 25457 | 76594;76595;76596 | chr2:178533426;178533425;178533424 | chr2:179398153;179398152;179398151 |
| Novex-2 | 25524 | 76795;76796;76797 | chr2:178533426;178533425;178533424 | chr2:179398153;179398152;179398151 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs1559025541  |
None | 0.992 | N | 0.488 | 0.396 | 0.333154297509 | gnomAD-4.0.0 | 1.36836E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31879E-05 | 0 |
| E/Q | rs1559025541 |
None | 0.957 | N | 0.323 | 0.21 | 0.312306559268 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| E/Q | rs1559025541 |
None | 0.957 | N | 0.323 | 0.21 | 0.312306559268 | gnomAD-4.0.0 | 2.05254E-06 | None | None | None | None | N | None | 0 | 2.23614E-05 | None | 0 | 0 | None | 0 | 0 | 1.79883E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.8242 | likely_pathogenic | 0.7804 | pathogenic | -1.071 | Destabilizing | 0.996 | D | 0.536 | neutral | N | 0.505625014 | None | None | N |
| E/C | 0.9837 | likely_pathogenic | 0.9777 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| E/D | 0.8629 | likely_pathogenic | 0.8039 | pathogenic | -1.444 | Destabilizing | 0.998 | D | 0.461 | neutral | N | 0.510089471 | None | None | N |
| E/F | 0.9787 | likely_pathogenic | 0.9645 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| E/G | 0.8713 | likely_pathogenic | 0.8318 | pathogenic | -1.468 | Destabilizing | 0.999 | D | 0.71 | prob.delet. | D | 0.532715614 | None | None | N |
| E/H | 0.9542 | likely_pathogenic | 0.9332 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| E/I | 0.9061 | likely_pathogenic | 0.8802 | pathogenic | 0.03 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| E/K | 0.8461 | likely_pathogenic | 0.8167 | pathogenic | -0.932 | Destabilizing | 0.992 | D | 0.488 | neutral | N | 0.459487292 | None | None | N |
| E/L | 0.9171 | likely_pathogenic | 0.8983 | pathogenic | 0.03 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| E/M | 0.8763 | likely_pathogenic | 0.8441 | pathogenic | 0.617 | Stabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| E/N | 0.95 | likely_pathogenic | 0.9227 | pathogenic | -1.33 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| E/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| E/Q | 0.4844 | ambiguous | 0.452 | ambiguous | -1.148 | Destabilizing | 0.957 | D | 0.323 | neutral | N | 0.46862685 | None | None | N |
| E/R | 0.9042 | likely_pathogenic | 0.8854 | pathogenic | -0.815 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | None | None | None | None | N |
| E/S | 0.8774 | likely_pathogenic | 0.8302 | pathogenic | -1.806 | Destabilizing | 0.997 | D | 0.549 | neutral | None | None | None | None | N |
| E/T | 0.8601 | likely_pathogenic | 0.8164 | pathogenic | -1.449 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| E/V | 0.7809 | likely_pathogenic | 0.7337 | pathogenic | -0.317 | Destabilizing | 0.999 | D | 0.757 | deleterious | N | 0.489847485 | None | None | N |
| E/W | 0.9924 | likely_pathogenic | 0.9877 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| E/Y | 0.971 | likely_pathogenic | 0.9537 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.798 | 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.