Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16354 | 49285;49286;49287 | chr2:178614337;178614336;178614335 | chr2:179479064;179479063;179479062 |
| N2AB | 14713 | 44362;44363;44364 | chr2:178614337;178614336;178614335 | chr2:179479064;179479063;179479062 |
| N2A | 13786 | 41581;41582;41583 | chr2:178614337;178614336;178614335 | chr2:179479064;179479063;179479062 |
| N2B | 7289 | 22090;22091;22092 | chr2:178614337;178614336;178614335 | chr2:179479064;179479063;179479062 |
| Novex-1 | 7414 | 22465;22466;22467 | chr2:178614337;178614336;178614335 | chr2:179479064;179479063;179479062 |
| Novex-2 | 7481 | 22666;22667;22668 | chr2:178614337;178614336;178614335 | chr2:179479064;179479063;179479062 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs747402071  |
-1.599 | 1.0 | D | 0.823 | 0.454 | 0.434934176536 | gnomAD-2.1.1 | 3.6E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.56E-05 | None | 0 | 6.33E-05 | 0 |
| P/S | rs747402071 |
-1.599 | 1.0 | D | 0.823 | 0.454 | 0.434934176536 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.95E-05 | 0 | 0 |
| P/S | rs747402071 |
-1.599 | 1.0 | D | 0.823 | 0.454 | 0.434934176536 | gnomAD-4.0.0 | 4.71404E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.59729E-05 | 7.69484E-05 | 4.80877E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1806 | likely_benign | 0.1699 | benign | -1.506 | Destabilizing | 1.0 | D | 0.814 | deleterious | N | 0.483408055 | None | None | N |
| P/C | 0.7885 | likely_pathogenic | 0.7688 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/D | 0.9461 | likely_pathogenic | 0.9386 | pathogenic | -1.741 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/E | 0.7493 | likely_pathogenic | 0.7341 | pathogenic | -1.793 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/F | 0.7977 | likely_pathogenic | 0.778 | pathogenic | -1.364 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| P/G | 0.8208 | likely_pathogenic | 0.7918 | pathogenic | -1.768 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/H | 0.6302 | likely_pathogenic | 0.6066 | pathogenic | -1.37 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/I | 0.4869 | ambiguous | 0.5172 | ambiguous | -0.891 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/K | 0.6658 | likely_pathogenic | 0.6373 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/L | 0.3254 | likely_benign | 0.308 | benign | -0.891 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.69029417 | None | None | N |
| P/M | 0.5684 | likely_pathogenic | 0.5571 | ambiguous | -0.535 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/N | 0.8387 | likely_pathogenic | 0.8221 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/Q | 0.4753 | ambiguous | 0.4476 | ambiguous | -1.218 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.633067279 | None | None | N |
| P/R | 0.5758 | likely_pathogenic | 0.5506 | ambiguous | -0.631 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.641344583 | None | None | N |
| P/S | 0.443 | ambiguous | 0.4288 | ambiguous | -1.321 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.591911557 | None | None | N |
| P/T | 0.4001 | ambiguous | 0.4051 | ambiguous | -1.286 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.661569358 | None | None | N |
| P/V | 0.4127 | ambiguous | 0.4331 | ambiguous | -1.063 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/W | 0.9522 | likely_pathogenic | 0.9453 | pathogenic | -1.517 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| P/Y | 0.8482 | likely_pathogenic | 0.8186 | pathogenic | -1.265 | Destabilizing | 1.0 | D | 0.905 | 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.