Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9637 | 29134;29135;29136 | chr2:178707658;178707657;178707656 | chr2:179572385;179572384;179572383 |
| N2AB | 9320 | 28183;28184;28185 | chr2:178707658;178707657;178707656 | chr2:179572385;179572384;179572383 |
| N2A | 8393 | 25402;25403;25404 | chr2:178707658;178707657;178707656 | chr2:179572385;179572384;179572383 |
| 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 | rs1160550023  |
-0.812 | 0.012 | None | 0.292 | 0.23 | 0.246215685461 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| S/N | None | None | None | None | 0.167 | 0.096 | 0.185906805712 | gnomAD-4.0.0 | 1.36836E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79883E-06 | 0 | 0 |
| S/R | rs1160550023 |
None | None | None | 0.323 | 0.24 | 0.252162846088 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/R | rs1160550023 |
None | None | None | 0.323 | 0.24 | 0.252162846088 | gnomAD-4.0.0 | 6.56996E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46998E-05 | 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 | 0.0974 | likely_benign | 0.0885 | benign | -0.958 | Destabilizing | 0.031 | N | 0.309 | neutral | None | None | None | None | N |
| S/C | 0.1511 | likely_benign | 0.1291 | benign | -0.728 | Destabilizing | 0.828 | D | 0.408 | neutral | None | None | None | None | N |
| S/D | 0.3364 | likely_benign | 0.2884 | benign | -0.379 | Destabilizing | 0.038 | N | 0.288 | neutral | None | None | None | None | N |
| S/E | 0.4912 | ambiguous | 0.4277 | ambiguous | -0.319 | Destabilizing | 0.031 | N | 0.306 | neutral | None | None | None | None | N |
| S/F | 0.1761 | likely_benign | 0.1491 | benign | -1.014 | Destabilizing | 0.214 | N | 0.489 | neutral | None | None | None | None | N |
| S/G | 0.1003 | likely_benign | 0.0843 | benign | -1.255 | Destabilizing | 0.012 | N | 0.292 | neutral | None | None | None | None | N |
| S/H | 0.2198 | likely_benign | 0.2043 | benign | -1.603 | Destabilizing | 0.356 | N | 0.42 | neutral | None | None | None | None | N |
| S/I | 0.1204 | likely_benign | 0.1097 | benign | -0.254 | Destabilizing | None | N | 0.375 | neutral | None | None | None | None | N |
| S/K | 0.4965 | ambiguous | 0.4346 | ambiguous | -0.528 | Destabilizing | None | N | 0.111 | neutral | None | None | None | None | N |
| S/L | 0.1146 | likely_benign | 0.1046 | benign | -0.254 | Destabilizing | 0.006 | N | 0.397 | neutral | None | None | None | None | N |
| S/M | 0.229 | likely_benign | 0.2161 | benign | -0.091 | Destabilizing | 0.214 | N | 0.422 | neutral | None | None | None | None | N |
| S/N | 0.0981 | likely_benign | 0.1013 | benign | -0.679 | Destabilizing | None | N | 0.167 | neutral | None | None | None | None | N |
| S/P | 0.681 | likely_pathogenic | 0.5971 | pathogenic | -0.455 | Destabilizing | 0.628 | D | 0.413 | neutral | None | None | None | None | N |
| S/Q | 0.3957 | ambiguous | 0.3583 | ambiguous | -0.755 | Destabilizing | 0.072 | N | 0.343 | neutral | None | None | None | None | N |
| S/R | 0.3671 | ambiguous | 0.3014 | benign | -0.548 | Destabilizing | None | N | 0.323 | neutral | None | None | None | None | N |
| S/T | 0.0781 | likely_benign | 0.0766 | benign | -0.68 | Destabilizing | 0.024 | N | 0.339 | neutral | None | None | None | None | N |
| S/V | 0.1517 | likely_benign | 0.1345 | benign | -0.455 | Destabilizing | 0.013 | N | 0.436 | neutral | None | None | None | None | N |
| S/W | 0.3974 | ambiguous | 0.3156 | benign | -0.964 | Destabilizing | 0.864 | D | 0.549 | neutral | None | None | None | None | N |
| S/Y | 0.1767 | likely_benign | 0.1523 | benign | -0.673 | Destabilizing | 0.356 | N | 0.492 | 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.