Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6173 | 18742;18743;18744 | chr2:178729736;178729735;178729734 | chr2:179594463;179594462;179594461 |
| N2AB | 5856 | 17791;17792;17793 | chr2:178729736;178729735;178729734 | chr2:179594463;179594462;179594461 |
| N2A | 4929 | 15010;15011;15012 | chr2:178729736;178729735;178729734 | chr2:179594463;179594462;179594461 |
| 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 | None | None | 0.999 | N | 0.521 | 0.363 | 0.425615883737 | gnomAD-4.0.0 | 1.36846E-06 | None | None | None | None | N | None | 2.98864E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15939E-05 | 0 |
| S/N | rs1243375835  |
-0.225 | 0.999 | N | 0.562 | 0.361 | 0.44551302605 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14705E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs1452419316 |
-0.267 | 1.0 | N | 0.86 | 0.481 | 0.438913950225 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| S/R | rs1452419316 |
-0.267 | 1.0 | N | 0.86 | 0.481 | 0.438913950225 | gnomAD-4.0.0 | 3.18277E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.7171E-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 | 0.1023 | likely_benign | 0.0894 | benign | -0.738 | Destabilizing | 0.998 | D | 0.426 | neutral | None | None | None | None | N |
| S/C | 0.2692 | likely_benign | 0.2105 | benign | -0.439 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.53520029 | None | None | N |
| S/D | 0.6806 | likely_pathogenic | 0.6211 | pathogenic | 0.435 | Stabilizing | 0.999 | D | 0.59 | neutral | None | None | None | None | N |
| S/E | 0.6692 | likely_pathogenic | 0.5745 | pathogenic | 0.437 | Stabilizing | 0.999 | D | 0.568 | neutral | None | None | None | None | N |
| S/F | 0.5193 | ambiguous | 0.4354 | ambiguous | -0.973 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| S/G | 0.1196 | likely_benign | 0.1121 | benign | -0.975 | Destabilizing | 0.999 | D | 0.521 | neutral | N | 0.494103482 | None | None | N |
| S/H | 0.6683 | likely_pathogenic | 0.5978 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| S/I | 0.4391 | ambiguous | 0.3191 | benign | -0.214 | Destabilizing | 1.0 | D | 0.871 | deleterious | N | 0.515272383 | None | None | N |
| S/K | 0.832 | likely_pathogenic | 0.7396 | pathogenic | -0.333 | Destabilizing | 0.999 | D | 0.578 | neutral | None | None | None | None | N |
| S/L | 0.2005 | likely_benign | 0.166 | benign | -0.214 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| S/M | 0.3464 | ambiguous | 0.3014 | benign | -0.044 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| S/N | 0.3249 | likely_benign | 0.2835 | benign | -0.302 | Destabilizing | 0.999 | D | 0.562 | neutral | N | 0.510802158 | None | None | N |
| S/P | 0.8311 | likely_pathogenic | 0.7604 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| S/Q | 0.6767 | likely_pathogenic | 0.6057 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| S/R | 0.6997 | likely_pathogenic | 0.6058 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.86 | deleterious | N | 0.503395872 | None | None | N |
| S/T | 0.0991 | likely_benign | 0.0906 | benign | -0.419 | Destabilizing | 0.999 | D | 0.49 | neutral | D | 0.524690777 | None | None | N |
| S/V | 0.4205 | ambiguous | 0.3258 | benign | -0.356 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| S/W | 0.643 | likely_pathogenic | 0.5798 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| S/Y | 0.4663 | ambiguous | 0.3821 | ambiguous | -0.628 | Destabilizing | 1.0 | D | 0.897 | deleterious | 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.