Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17526 | 52801;52802;52803 | chr2:178608307;178608306;178608305 | chr2:179473034;179473033;179473032 |
| N2AB | 15885 | 47878;47879;47880 | chr2:178608307;178608306;178608305 | chr2:179473034;179473033;179473032 |
| N2A | 14958 | 45097;45098;45099 | chr2:178608307;178608306;178608305 | chr2:179473034;179473033;179473032 |
| N2B | 8461 | 25606;25607;25608 | chr2:178608307;178608306;178608305 | chr2:179473034;179473033;179473032 |
| Novex-1 | 8586 | 25981;25982;25983 | chr2:178608307;178608306;178608305 | chr2:179473034;179473033;179473032 |
| Novex-2 | 8653 | 26182;26183;26184 | chr2:178608307;178608306;178608305 | chr2:179473034;179473033;179473032 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1313172755  |
-0.727 | 0.012 | N | 0.259 | 0.042 | 0.143124449307 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| A/T | rs1313172755 |
-0.727 | 0.012 | N | 0.259 | 0.042 | 0.143124449307 | gnomAD-4.0.0 | 3.18894E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86993E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.2573 | likely_benign | 0.2623 | benign | -0.573 | Destabilizing | 0.356 | N | 0.359 | neutral | None | None | None | None | N |
| A/D | 0.1177 | likely_benign | 0.1274 | benign | -0.933 | Destabilizing | 0.029 | N | 0.393 | neutral | N | 0.39617124 | None | None | N |
| A/E | 0.1479 | likely_benign | 0.1548 | benign | -0.882 | Destabilizing | 0.038 | N | 0.353 | neutral | None | None | None | None | N |
| A/F | 0.2257 | likely_benign | 0.2507 | benign | -0.735 | Destabilizing | None | N | 0.273 | neutral | None | None | None | None | N |
| A/G | 0.1032 | likely_benign | 0.1006 | benign | -1.039 | Destabilizing | 0.012 | N | 0.292 | neutral | N | 0.447773497 | None | None | N |
| A/H | 0.2848 | likely_benign | 0.2956 | benign | -0.952 | Destabilizing | 0.356 | N | 0.385 | neutral | None | None | None | None | N |
| A/I | 0.1693 | likely_benign | 0.1857 | benign | -0.07 | Destabilizing | 0.038 | N | 0.367 | neutral | None | None | None | None | N |
| A/K | 0.3175 | likely_benign | 0.3109 | benign | -0.79 | Destabilizing | 0.038 | N | 0.354 | neutral | None | None | None | None | N |
| A/L | 0.1408 | likely_benign | 0.1499 | benign | -0.07 | Destabilizing | 0.016 | N | 0.363 | neutral | None | None | None | None | N |
| A/M | 0.165 | likely_benign | 0.1736 | benign | -0.231 | Destabilizing | 0.356 | N | 0.359 | neutral | None | None | None | None | N |
| A/N | 0.1207 | likely_benign | 0.1309 | benign | -0.698 | Destabilizing | 0.038 | N | 0.383 | neutral | None | None | None | None | N |
| A/P | 0.4293 | ambiguous | 0.4039 | ambiguous | -0.257 | Destabilizing | 0.171 | N | 0.385 | neutral | N | 0.499951756 | None | None | N |
| A/Q | 0.2186 | likely_benign | 0.2267 | benign | -0.734 | Destabilizing | 0.214 | N | 0.383 | neutral | None | None | None | None | N |
| A/R | 0.3212 | likely_benign | 0.3125 | benign | -0.583 | Destabilizing | 0.214 | N | 0.385 | neutral | None | None | None | None | N |
| A/S | 0.0659 | likely_benign | 0.0673 | benign | -1.076 | Destabilizing | None | N | 0.09 | neutral | N | 0.407945672 | None | None | N |
| A/T | 0.0627 | likely_benign | 0.0665 | benign | -0.91 | Destabilizing | 0.012 | N | 0.259 | neutral | N | 0.41546629 | None | None | N |
| A/V | 0.0989 | likely_benign | 0.1038 | benign | -0.257 | Destabilizing | None | N | 0.127 | neutral | N | 0.457105056 | None | None | N |
| A/W | 0.6181 | likely_pathogenic | 0.6204 | pathogenic | -1.119 | Destabilizing | 0.864 | D | 0.407 | neutral | None | None | None | None | N |
| A/Y | 0.2776 | likely_benign | 0.292 | benign | -0.635 | Destabilizing | 0.001 | N | 0.323 | neutral | 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.