Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21022 | 63289;63290;63291 | chr2:178588661;178588660;178588659 | chr2:179453388;179453387;179453386 |
| N2AB | 19381 | 58366;58367;58368 | chr2:178588661;178588660;178588659 | chr2:179453388;179453387;179453386 |
| N2A | 18454 | 55585;55586;55587 | chr2:178588661;178588660;178588659 | chr2:179453388;179453387;179453386 |
| N2B | 11957 | 36094;36095;36096 | chr2:178588661;178588660;178588659 | chr2:179453388;179453387;179453386 |
| Novex-1 | 12082 | 36469;36470;36471 | chr2:178588661;178588660;178588659 | chr2:179453388;179453387;179453386 |
| Novex-2 | 12149 | 36670;36671;36672 | chr2:178588661;178588660;178588659 | chr2:179453388;179453387;179453386 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs779112015  |
-0.466 | 1.0 | N | 0.777 | 0.417 | 0.449860987313 | gnomAD-2.1.1 | 4.05E-05 | None | None | None | None | N | None | 0 | 2.93E-05 | None | 0 | 0 | None | 2.6476E-04 | None | 0 | 0 | 1.67729E-04 |
| R/C | rs779112015 |
-0.466 | 1.0 | N | 0.777 | 0.417 | 0.449860987313 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| R/C | rs779112015 |
-0.466 | 1.0 | N | 0.777 | 0.417 | 0.449860987313 | gnomAD-4.0.0 | 1.98558E-05 | None | None | None | None | N | None | 0 | 1.67532E-05 | None | 0 | 2.23334E-05 | None | 0 | 0 | 6.78525E-06 | 1.98605E-04 | 6.41416E-05 |
| R/H | rs727503585 |
-0.961 | 1.0 | N | 0.769 | 0.4 | 0.380394304726 | gnomAD-2.1.1 | 1.22393E-04 | None | None | None | None | N | None | 0 | 7.72798E-04 | None | 0 | 2.58078E-04 | None | 3.33E-05 | None | 0 | 7.86E-06 | 0 |
| R/H | rs727503585 |
-0.961 | 1.0 | N | 0.769 | 0.4 | 0.380394304726 | gnomAD-3.1.2 | 6.58E-05 | None | None | None | None | N | None | 4.83E-05 | 3.27869E-04 | 0 | 0 | 3.88651E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/H | rs727503585 |
-0.961 | 1.0 | N | 0.769 | 0.4 | 0.380394304726 | gnomAD-4.0.0 | 3.59993E-05 | None | None | None | None | N | None | 5.35246E-05 | 5.19855E-04 | None | 0 | 8.93136E-05 | None | 0 | 0 | 1.27243E-05 | 3.31558E-05 | 1.604E-05 |
| R/L | rs727503585 |
None | 1.0 | N | 0.659 | 0.401 | 0.413503789086 | gnomAD-4.0.0 | 2.74134E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60079E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9207 | likely_pathogenic | 0.868 | pathogenic | -0.489 | Destabilizing | 0.999 | D | 0.611 | neutral | None | None | None | None | N |
| R/C | 0.5268 | ambiguous | 0.4367 | ambiguous | -0.609 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.513961203 | None | None | N |
| R/D | 0.9714 | likely_pathogenic | 0.9563 | pathogenic | -0.046 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| R/E | 0.8567 | likely_pathogenic | 0.7688 | pathogenic | 0.112 | Stabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | N |
| R/F | 0.893 | likely_pathogenic | 0.8402 | pathogenic | -0.153 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| R/G | 0.8506 | likely_pathogenic | 0.7662 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.659 | neutral | N | 0.506899158 | None | None | N |
| R/H | 0.3054 | likely_benign | 0.2387 | benign | -1.12 | Destabilizing | 1.0 | D | 0.769 | deleterious | N | 0.455528975 | None | None | N |
| R/I | 0.7984 | likely_pathogenic | 0.7045 | pathogenic | 0.399 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| R/K | 0.313 | likely_benign | 0.2375 | benign | -0.471 | Destabilizing | 0.998 | D | 0.527 | neutral | None | None | None | None | N |
| R/L | 0.7614 | likely_pathogenic | 0.6677 | pathogenic | 0.399 | Stabilizing | 1.0 | D | 0.659 | neutral | N | 0.502397415 | None | None | N |
| R/M | 0.8103 | likely_pathogenic | 0.7005 | pathogenic | -0.232 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| R/N | 0.9361 | likely_pathogenic | 0.904 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| R/P | 0.9824 | likely_pathogenic | 0.9798 | pathogenic | 0.124 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.500069186 | None | None | N |
| R/Q | 0.3405 | ambiguous | 0.2359 | benign | -0.276 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| R/S | 0.9319 | likely_pathogenic | 0.8861 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | N | 0.395168376 | None | None | N |
| R/T | 0.8071 | likely_pathogenic | 0.6714 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| R/V | 0.832 | likely_pathogenic | 0.7543 | pathogenic | 0.124 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| R/W | 0.4987 | ambiguous | 0.3811 | ambiguous | 0.088 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| R/Y | 0.7508 | likely_pathogenic | 0.6798 | pathogenic | 0.378 | Stabilizing | 1.0 | D | 0.767 | 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.