Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13985 | 42178;42179;42180 | chr2:178635236;178635235;178635234 | chr2:179499963;179499962;179499961 |
| N2AB | 12344 | 37255;37256;37257 | chr2:178635236;178635235;178635234 | chr2:179499963;179499962;179499961 |
| N2A | 11417 | 34474;34475;34476 | chr2:178635236;178635235;178635234 | chr2:179499963;179499962;179499961 |
| N2B | 4920 | 14983;14984;14985 | chr2:178635236;178635235;178635234 | chr2:179499963;179499962;179499961 |
| Novex-1 | 5045 | 15358;15359;15360 | chr2:178635236;178635235;178635234 | chr2:179499963;179499962;179499961 |
| Novex-2 | 5112 | 15559;15560;15561 | chr2:178635236;178635235;178635234 | chr2:179499963;179499962;179499961 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | None | N | 0.227 | 0.056 | 0.0551355673512 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/G | rs779561282  |
-0.43 | 0.189 | N | 0.597 | 0.225 | 0.0986583533028 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| D/G | rs779561282 |
-0.43 | 0.189 | N | 0.597 | 0.225 | 0.0986583533028 | gnomAD-4.0.0 | 4.77681E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72014E-06 | 0 | 3.02608E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4484 | ambiguous | 0.3578 | ambiguous | -0.246 | Destabilizing | 0.104 | N | 0.634 | neutral | N | 0.411095373 | None | None | N |
| D/C | 0.911 | likely_pathogenic | 0.8713 | pathogenic | -0.079 | Destabilizing | 0.962 | D | 0.743 | deleterious | None | None | None | None | N |
| D/E | 0.2313 | likely_benign | 0.22 | benign | -0.532 | Destabilizing | None | N | 0.227 | neutral | N | 0.395371151 | None | None | N |
| D/F | 0.8657 | likely_pathogenic | 0.7905 | pathogenic | 0.477 | Stabilizing | 0.962 | D | 0.762 | deleterious | None | None | None | None | N |
| D/G | 0.6565 | likely_pathogenic | 0.5262 | ambiguous | -0.682 | Destabilizing | 0.189 | N | 0.597 | neutral | N | 0.412806824 | None | None | N |
| D/H | 0.6889 | likely_pathogenic | 0.5722 | pathogenic | 0.089 | Stabilizing | 0.862 | D | 0.649 | prob.neutral | N | 0.411860958 | None | None | N |
| D/I | 0.7594 | likely_pathogenic | 0.6177 | pathogenic | 0.928 | Stabilizing | 0.687 | D | 0.781 | deleterious | None | None | None | None | N |
| D/K | 0.85 | likely_pathogenic | 0.7661 | pathogenic | -0.304 | Destabilizing | 0.134 | N | 0.601 | neutral | None | None | None | None | N |
| D/L | 0.7356 | likely_pathogenic | 0.6267 | pathogenic | 0.928 | Stabilizing | 0.519 | D | 0.756 | deleterious | None | None | None | None | N |
| D/M | 0.8911 | likely_pathogenic | 0.8281 | pathogenic | 1.346 | Stabilizing | 0.962 | D | 0.771 | deleterious | None | None | None | None | N |
| D/N | 0.3066 | likely_benign | 0.2097 | benign | -0.881 | Destabilizing | 0.449 | N | 0.633 | neutral | N | 0.42958004 | None | None | N |
| D/P | 0.9744 | likely_pathogenic | 0.9479 | pathogenic | 0.564 | Stabilizing | 0.687 | D | 0.699 | prob.delet. | None | None | None | None | N |
| D/Q | 0.7193 | likely_pathogenic | 0.6069 | pathogenic | -0.637 | Destabilizing | 0.351 | N | 0.644 | neutral | None | None | None | None | N |
| D/R | 0.8659 | likely_pathogenic | 0.7866 | pathogenic | -0.153 | Destabilizing | 0.351 | N | 0.722 | deleterious | None | None | None | None | N |
| D/S | 0.3282 | likely_benign | 0.2183 | benign | -1.226 | Destabilizing | 0.134 | N | 0.548 | neutral | None | None | None | None | N |
| D/T | 0.5245 | ambiguous | 0.3887 | ambiguous | -0.849 | Destabilizing | 0.519 | D | 0.647 | neutral | None | None | None | None | N |
| D/V | 0.5617 | ambiguous | 0.4028 | ambiguous | 0.564 | Stabilizing | 0.449 | N | 0.757 | deleterious | N | 0.409565984 | None | None | N |
| D/W | 0.9762 | likely_pathogenic | 0.964 | pathogenic | 0.643 | Stabilizing | 0.962 | D | 0.717 | prob.delet. | None | None | None | None | N |
| D/Y | 0.6044 | likely_pathogenic | 0.4902 | ambiguous | 0.741 | Stabilizing | 0.95 | D | 0.763 | deleterious | N | 0.411860958 | 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.