Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16098 | 48517;48518;48519 | chr2:178616499;178616498;178616497 | chr2:179481226;179481225;179481224 |
| N2AB | 14457 | 43594;43595;43596 | chr2:178616499;178616498;178616497 | chr2:179481226;179481225;179481224 |
| N2A | 13530 | 40813;40814;40815 | chr2:178616499;178616498;178616497 | chr2:179481226;179481225;179481224 |
| N2B | 7033 | 21322;21323;21324 | chr2:178616499;178616498;178616497 | chr2:179481226;179481225;179481224 |
| Novex-1 | 7158 | 21697;21698;21699 | chr2:178616499;178616498;178616497 | chr2:179481226;179481225;179481224 |
| Novex-2 | 7225 | 21898;21899;21900 | chr2:178616499;178616498;178616497 | chr2:179481226;179481225;179481224 |
| 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 | rs750949782  |
-0.522 | 0.055 | N | 0.407 | 0.091 | 0.110078149338 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/G | rs750949782 |
-0.522 | 0.055 | N | 0.407 | 0.091 | 0.110078149338 | gnomAD-4.0.0 | 3.18902E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86513E-06 | 1.43443E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.103 | likely_benign | 0.0984 | benign | -0.153 | Destabilizing | 0.005 | N | 0.283 | neutral | None | None | None | None | N |
| S/C | 0.1705 | likely_benign | 0.1583 | benign | -0.427 | Destabilizing | 0.958 | D | 0.446 | neutral | D | 0.62535922 | None | None | N |
| S/D | 0.5211 | ambiguous | 0.5286 | ambiguous | 0.084 | Stabilizing | 0.157 | N | 0.296 | neutral | None | None | None | None | N |
| S/E | 0.6529 | likely_pathogenic | 0.6672 | pathogenic | -0.016 | Destabilizing | 0.157 | N | 0.299 | neutral | None | None | None | None | N |
| S/F | 0.3642 | ambiguous | 0.3271 | benign | -0.8 | Destabilizing | 0.89 | D | 0.543 | neutral | None | None | None | None | N |
| S/G | 0.0867 | likely_benign | 0.0805 | benign | -0.23 | Destabilizing | 0.055 | N | 0.407 | neutral | N | 0.399380961 | None | None | N |
| S/H | 0.4773 | ambiguous | 0.4711 | ambiguous | -0.571 | Destabilizing | 0.567 | D | 0.389 | neutral | None | None | None | None | N |
| S/I | 0.2768 | likely_benign | 0.2505 | benign | -0.087 | Destabilizing | 0.667 | D | 0.527 | neutral | D | 0.560008917 | None | None | N |
| S/K | 0.8325 | likely_pathogenic | 0.8456 | pathogenic | -0.457 | Destabilizing | 0.157 | N | 0.305 | neutral | None | None | None | None | N |
| S/L | 0.1504 | likely_benign | 0.1316 | benign | -0.087 | Destabilizing | 0.272 | N | 0.415 | neutral | None | None | None | None | N |
| S/M | 0.2398 | likely_benign | 0.2219 | benign | -0.103 | Destabilizing | 0.968 | D | 0.395 | neutral | None | None | None | None | N |
| S/N | 0.1527 | likely_benign | 0.1307 | benign | -0.252 | Destabilizing | 0.001 | N | 0.219 | neutral | N | 0.4679728 | None | None | N |
| S/P | 0.4293 | ambiguous | 0.3748 | ambiguous | -0.082 | Destabilizing | 0.726 | D | 0.377 | neutral | None | None | None | None | N |
| S/Q | 0.5892 | likely_pathogenic | 0.5968 | pathogenic | -0.474 | Destabilizing | 0.567 | D | 0.315 | neutral | None | None | None | None | N |
| S/R | 0.8169 | likely_pathogenic | 0.8236 | pathogenic | -0.192 | Destabilizing | 0.497 | N | 0.353 | neutral | N | 0.481373009 | None | None | N |
| S/T | 0.0817 | likely_benign | 0.0779 | benign | -0.348 | Destabilizing | 0.124 | N | 0.386 | neutral | N | 0.481561985 | None | None | N |
| S/V | 0.2678 | likely_benign | 0.2546 | benign | -0.082 | Destabilizing | 0.567 | D | 0.452 | neutral | None | None | None | None | N |
| S/W | 0.5464 | ambiguous | 0.5134 | ambiguous | -0.867 | Destabilizing | 0.968 | D | 0.681 | prob.neutral | None | None | None | None | N |
| S/Y | 0.3816 | ambiguous | 0.3632 | ambiguous | -0.559 | Destabilizing | 0.89 | D | 0.535 | 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.