Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6283 | 19072;19073;19074 | chr2:178729309;178729308;178729307 | chr2:179594036;179594035;179594034 |
| N2AB | 5966 | 18121;18122;18123 | chr2:178729309;178729308;178729307 | chr2:179594036;179594035;179594034 |
| N2A | 5039 | 15340;15341;15342 | chr2:178729309;178729308;178729307 | chr2:179594036;179594035;179594034 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/G | rs779861459  |
-0.852 | 0.012 | N | 0.427 | 0.29 | 0.281780670237 | gnomAD-2.1.1 | 2.16E-05 | None | None | None | None | N | None | 2.48262E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/G | rs779861459 |
-0.852 | 0.012 | N | 0.427 | 0.29 | 0.281780670237 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 1.44774E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/G | rs779861459 |
-0.852 | 0.012 | N | 0.427 | 0.29 | 0.281780670237 | gnomAD-4.0.0 | 7.44794E-06 | None | None | None | None | N | None | 1.33586E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69763E-06 | 0 | 0 |
| S/I | None | None | 0.093 | N | 0.649 | 0.265 | 0.591671430083 | gnomAD-4.0.0 | 6.85547E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00992E-07 | 0 | 0 |
| S/N | rs1283369258 |
-0.599 | None | N | 0.221 | 0.153 | 0.144782658237 | gnomAD-4.0.0 | 2.05664E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70297E-06 | 0 | 0 |
| S/R | None | None | 0.029 | N | 0.541 | 0.321 | 0.230578612272 | gnomAD-4.0.0 | 1.37078E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80165E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0932 | likely_benign | 0.0884 | benign | -0.45 | Destabilizing | 0.007 | N | 0.313 | neutral | None | None | None | None | N |
| S/C | 0.153 | likely_benign | 0.1437 | benign | -0.294 | Destabilizing | None | N | 0.317 | neutral | D | 0.523412685 | None | None | N |
| S/D | 0.308 | likely_benign | 0.3258 | benign | -0.262 | Destabilizing | 0.038 | N | 0.451 | neutral | None | None | None | None | N |
| S/E | 0.4158 | ambiguous | 0.4153 | ambiguous | -0.349 | Destabilizing | 0.016 | N | 0.432 | neutral | None | None | None | None | N |
| S/F | 0.1837 | likely_benign | 0.1646 | benign | -0.957 | Destabilizing | 0.356 | N | 0.624 | neutral | None | None | None | None | N |
| S/G | 0.0831 | likely_benign | 0.0864 | benign | -0.587 | Destabilizing | 0.012 | N | 0.427 | neutral | N | 0.499432626 | None | None | N |
| S/H | 0.2149 | likely_benign | 0.2195 | benign | -1.122 | Destabilizing | 0.214 | N | 0.582 | neutral | None | None | None | None | N |
| S/I | 0.1306 | likely_benign | 0.1295 | benign | -0.214 | Destabilizing | 0.093 | N | 0.649 | neutral | N | 0.496318754 | None | None | N |
| S/K | 0.39 | ambiguous | 0.393 | ambiguous | -0.63 | Destabilizing | None | N | 0.193 | neutral | None | None | None | None | N |
| S/L | 0.1146 | likely_benign | 0.111 | benign | -0.214 | Destabilizing | 0.038 | N | 0.567 | neutral | None | None | None | None | N |
| S/M | 0.1945 | likely_benign | 0.1975 | benign | 0.174 | Stabilizing | 0.356 | N | 0.581 | neutral | None | None | None | None | N |
| S/N | 0.0914 | likely_benign | 0.0972 | benign | -0.363 | Destabilizing | None | N | 0.221 | neutral | N | 0.486417253 | None | None | N |
| S/P | 0.4801 | ambiguous | 0.4108 | ambiguous | -0.263 | Destabilizing | 0.136 | N | 0.603 | neutral | None | None | None | None | N |
| S/Q | 0.3204 | likely_benign | 0.3244 | benign | -0.682 | Destabilizing | 0.003 | N | 0.279 | neutral | None | None | None | None | N |
| S/R | 0.3053 | likely_benign | 0.298 | benign | -0.349 | Destabilizing | 0.029 | N | 0.541 | neutral | N | 0.489201957 | None | None | N |
| S/T | 0.0755 | likely_benign | 0.0739 | benign | -0.445 | Destabilizing | None | N | 0.203 | neutral | N | 0.500600409 | None | None | N |
| S/V | 0.1538 | likely_benign | 0.151 | benign | -0.263 | Destabilizing | 0.038 | N | 0.599 | neutral | None | None | None | None | N |
| S/W | 0.3539 | ambiguous | 0.325 | benign | -0.932 | Destabilizing | 0.864 | D | 0.655 | neutral | None | None | None | None | N |
| S/Y | 0.1733 | likely_benign | 0.1643 | benign | -0.673 | Destabilizing | 0.628 | D | 0.627 | 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.