Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1118 | 3577;3578;3579 | chr2:178782240;178782239;178782238 | chr2:179646967;179646966;179646965 |
| N2AB | 1118 | 3577;3578;3579 | chr2:178782240;178782239;178782238 | chr2:179646967;179646966;179646965 |
| N2A | 1118 | 3577;3578;3579 | chr2:178782240;178782239;178782238 | chr2:179646967;179646966;179646965 |
| N2B | 1072 | 3439;3440;3441 | chr2:178782240;178782239;178782238 | chr2:179646967;179646966;179646965 |
| Novex-1 | 1072 | 3439;3440;3441 | chr2:178782240;178782239;178782238 | chr2:179646967;179646966;179646965 |
| Novex-2 | 1072 | 3439;3440;3441 | chr2:178782240;178782239;178782238 | chr2:179646967;179646966;179646965 |
| Novex-3 | 1118 | 3577;3578;3579 | chr2:178782240;178782239;178782238 | chr2:179646967;179646966;179646965 |
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/C | rs2092847836  |
None | 0.928 | N | 0.386 | 0.25 | 0.257786959452 | gnomAD-4.0.0 | 1.36815E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 1.6559E-05 |
| S/Y | None | None | 0.912 | N | 0.446 | 0.186 | 0.37953744168 | gnomAD-4.0.0 | 6.84075E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99305E-07 | 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 | 0.0833 | likely_benign | 0.0775 | benign | -0.211 | Destabilizing | 0.001 | N | 0.083 | neutral | N | 0.4473208 | None | None | N |
| S/C | 0.2121 | likely_benign | 0.2006 | benign | -0.315 | Destabilizing | 0.928 | D | 0.386 | neutral | N | 0.500605922 | None | None | N |
| S/D | 0.4216 | ambiguous | 0.4348 | ambiguous | 0.334 | Stabilizing | 0.241 | N | 0.237 | neutral | None | None | None | None | N |
| S/E | 0.6241 | likely_pathogenic | 0.6274 | pathogenic | 0.23 | Stabilizing | 0.388 | N | 0.251 | neutral | None | None | None | None | N |
| S/F | 0.3569 | ambiguous | 0.3761 | ambiguous | -0.864 | Destabilizing | 0.773 | D | 0.444 | neutral | N | 0.443876628 | None | None | N |
| S/G | 0.0863 | likely_benign | 0.08 | benign | -0.286 | Destabilizing | None | N | 0.075 | neutral | None | None | None | None | N |
| S/H | 0.4757 | ambiguous | 0.4952 | ambiguous | -0.705 | Destabilizing | 0.818 | D | 0.39 | neutral | None | None | None | None | N |
| S/I | 0.4628 | ambiguous | 0.4829 | ambiguous | -0.147 | Destabilizing | 0.69 | D | 0.441 | neutral | None | None | None | None | N |
| S/K | 0.7858 | likely_pathogenic | 0.7923 | pathogenic | -0.323 | Destabilizing | 0.388 | N | 0.246 | neutral | None | None | None | None | N |
| S/L | 0.1684 | likely_benign | 0.1731 | benign | -0.147 | Destabilizing | 0.241 | N | 0.434 | neutral | None | None | None | None | N |
| S/M | 0.2874 | likely_benign | 0.2874 | benign | -0.046 | Destabilizing | 0.944 | D | 0.382 | neutral | None | None | None | None | N |
| S/N | 0.1331 | likely_benign | 0.1337 | benign | -0.08 | Destabilizing | 0.004 | N | 0.087 | neutral | None | None | None | None | N |
| S/P | 0.8881 | likely_pathogenic | 0.9172 | pathogenic | -0.142 | Destabilizing | 0.773 | D | 0.398 | neutral | N | 0.449308919 | None | None | N |
| S/Q | 0.5622 | ambiguous | 0.5698 | pathogenic | -0.313 | Destabilizing | 0.818 | D | 0.355 | neutral | None | None | None | None | N |
| S/R | 0.7113 | likely_pathogenic | 0.7367 | pathogenic | -0.128 | Destabilizing | 0.69 | D | 0.401 | neutral | None | None | None | None | N |
| S/T | 0.1647 | likely_benign | 0.166 | benign | -0.217 | Destabilizing | 0.165 | N | 0.288 | neutral | N | 0.441298643 | None | None | N |
| S/V | 0.4115 | ambiguous | 0.4226 | ambiguous | -0.142 | Destabilizing | 0.241 | N | 0.439 | neutral | None | None | None | None | N |
| S/W | 0.5178 | ambiguous | 0.5676 | pathogenic | -0.9 | Destabilizing | 0.981 | D | 0.493 | neutral | None | None | None | None | N |
| S/Y | 0.2878 | likely_benign | 0.3183 | benign | -0.597 | Destabilizing | 0.912 | D | 0.446 | neutral | N | 0.459018513 | 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.