Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15400 | 46423;46424;46425 | chr2:178620323;178620322;178620321 | chr2:179485050;179485049;179485048 |
| N2AB | 13759 | 41500;41501;41502 | chr2:178620323;178620322;178620321 | chr2:179485050;179485049;179485048 |
| N2A | 12832 | 38719;38720;38721 | chr2:178620323;178620322;178620321 | chr2:179485050;179485049;179485048 |
| N2B | 6335 | 19228;19229;19230 | chr2:178620323;178620322;178620321 | chr2:179485050;179485049;179485048 |
| Novex-1 | 6460 | 19603;19604;19605 | chr2:178620323;178620322;178620321 | chr2:179485050;179485049;179485048 |
| Novex-2 | 6527 | 19804;19805;19806 | chr2:178620323;178620322;178620321 | chr2:179485050;179485049;179485048 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs745948750  |
-1.048 | 0.999 | D | 0.655 | 0.424 | 0.509346181843 | gnomAD-2.1.1 | 4.31E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.85E-05 | None | 0 | 0 | 0 |
| Q/H | rs745948750 |
-1.048 | 0.999 | D | 0.655 | 0.424 | 0.509346181843 | gnomAD-4.0.0 | 1.65636E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.53445E-05 | 0 |
| Q/K | rs2154210935 |
None | 0.997 | N | 0.441 | 0.416 | 0.37262878642 | gnomAD-4.0.0 | 1.39075E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.09988E-07 | 1.22023E-05 | 0 |
| Q/L | None | None | 0.997 | N | 0.596 | 0.467 | 0.550047086221 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.5611 | ambiguous | 0.5542 | ambiguous | -0.749 | Destabilizing | 0.997 | D | 0.459 | neutral | None | None | None | None | N |
| Q/C | 0.8721 | likely_pathogenic | 0.8834 | pathogenic | -0.061 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| Q/D | 0.9108 | likely_pathogenic | 0.9393 | pathogenic | -0.713 | Destabilizing | 0.997 | D | 0.446 | neutral | None | None | None | None | N |
| Q/E | 0.1888 | likely_benign | 0.2101 | benign | -0.541 | Destabilizing | 0.992 | D | 0.385 | neutral | D | 0.56644047 | None | None | N |
| Q/F | 0.9289 | likely_pathogenic | 0.9479 | pathogenic | -0.211 | Destabilizing | 0.999 | D | 0.774 | deleterious | None | None | None | None | N |
| Q/G | 0.8338 | likely_pathogenic | 0.8759 | pathogenic | -1.173 | Destabilizing | 0.997 | D | 0.596 | neutral | None | None | None | None | N |
| Q/H | 0.6728 | likely_pathogenic | 0.7396 | pathogenic | -0.843 | Destabilizing | 0.999 | D | 0.655 | neutral | D | 0.59795476 | None | None | N |
| Q/I | 0.5138 | ambiguous | 0.5022 | ambiguous | 0.371 | Stabilizing | 0.999 | D | 0.776 | deleterious | None | None | None | None | N |
| Q/K | 0.1469 | likely_benign | 0.1729 | benign | -0.339 | Destabilizing | 0.997 | D | 0.441 | neutral | N | 0.506924587 | None | None | N |
| Q/L | 0.3334 | likely_benign | 0.3505 | ambiguous | 0.371 | Stabilizing | 0.997 | D | 0.596 | neutral | N | 0.49811382 | None | None | N |
| Q/M | 0.4959 | ambiguous | 0.4886 | ambiguous | 0.686 | Stabilizing | 0.999 | D | 0.656 | neutral | None | None | None | None | N |
| Q/N | 0.7675 | likely_pathogenic | 0.8153 | pathogenic | -1.002 | Destabilizing | 0.999 | D | 0.603 | neutral | None | None | None | None | N |
| Q/P | 0.9844 | likely_pathogenic | 0.9921 | pathogenic | 0.029 | Stabilizing | 0.999 | D | 0.716 | prob.delet. | D | 0.660885733 | None | None | N |
| Q/R | 0.2089 | likely_benign | 0.2444 | benign | -0.389 | Destabilizing | 0.997 | D | 0.444 | neutral | D | 0.538472476 | None | None | N |
| Q/S | 0.7127 | likely_pathogenic | 0.7502 | pathogenic | -1.177 | Destabilizing | 0.997 | D | 0.405 | neutral | None | None | None | None | N |
| Q/T | 0.4239 | ambiguous | 0.4413 | ambiguous | -0.795 | Destabilizing | 0.999 | D | 0.632 | neutral | None | None | None | None | N |
| Q/V | 0.369 | ambiguous | 0.3474 | ambiguous | 0.029 | Stabilizing | 0.999 | D | 0.677 | prob.neutral | None | None | None | None | N |
| Q/W | 0.9482 | likely_pathogenic | 0.9682 | pathogenic | -0.107 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| Q/Y | 0.8749 | likely_pathogenic | 0.9186 | pathogenic | 0.149 | Stabilizing | 0.999 | D | 0.725 | prob.delet. | 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.