Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22359 | 67300;67301;67302 | chr2:178580212;178580211;178580210 | chr2:179444939;179444938;179444937 |
| N2AB | 20718 | 62377;62378;62379 | chr2:178580212;178580211;178580210 | chr2:179444939;179444938;179444937 |
| N2A | 19791 | 59596;59597;59598 | chr2:178580212;178580211;178580210 | chr2:179444939;179444938;179444937 |
| N2B | 13294 | 40105;40106;40107 | chr2:178580212;178580211;178580210 | chr2:179444939;179444938;179444937 |
| Novex-1 | 13419 | 40480;40481;40482 | chr2:178580212;178580211;178580210 | chr2:179444939;179444938;179444937 |
| Novex-2 | 13486 | 40681;40682;40683 | chr2:178580212;178580211;178580210 | chr2:179444939;179444938;179444937 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs2303838  |
-0.544 | 0.003 | N | 0.171 | 0.029 | None | gnomAD-2.1.1 | 2.40208E-01 | None | None | None | None | N | None | 3.3412E-01 | 1.92856E-01 | None | 2.35072E-01 | 6.10084E-01 | None | 3.26264E-01 | None | 1.71405E-01 | 1.74205E-01 | 2.1685E-01 |
| V/I | rs2303838 |
-0.544 | 0.003 | N | 0.171 | 0.029 | None | gnomAD-3.1.2 | 2.45014E-01 | None | None | None | None | N | None | 3.35173E-01 | 2.00052E-01 | 4.85619E-01 | 2.36736E-01 | 6.13512E-01 | None | 1.81913E-01 | 2.05696E-01 | 1.74161E-01 | 3.28002E-01 | 2.33014E-01 |
| V/I | rs2303838 |
-0.544 | 0.003 | N | 0.171 | 0.029 | None | 1000 genomes | 3.51238E-01 | None | None | None | None | N | None | 3.434E-01 | 2.147E-01 | None | None | 6.31E-01 | 1.849E-01 | None | None | None | 3.415E-01 | None |
| V/I | rs2303838 |
-0.544 | 0.003 | N | 0.171 | 0.029 | None | gnomAD-4.0.0 | 2.02234E-01 | None | None | None | None | N | None | 3.36518E-01 | 1.97103E-01 | None | 2.36169E-01 | 6.14035E-01 | None | 1.71923E-01 | 2.5091E-01 | 1.68169E-01 | 3.23843E-01 | 2.24165E-01 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1536 | likely_benign | 0.1399 | benign | -1.605 | Destabilizing | 0.505 | D | 0.569 | neutral | N | 0.448618859 | None | None | N |
| V/C | 0.6 | likely_pathogenic | 0.5342 | ambiguous | -0.878 | Destabilizing | 0.991 | D | 0.669 | neutral | None | None | None | None | N |
| V/D | 0.3768 | ambiguous | 0.3821 | ambiguous | -1.777 | Destabilizing | 0.879 | D | 0.756 | deleterious | N | 0.478133689 | None | None | N |
| V/E | 0.2187 | likely_benign | 0.2338 | benign | -1.774 | Destabilizing | 0.906 | D | 0.734 | prob.delet. | None | None | None | None | N |
| V/F | 0.1951 | likely_benign | 0.1943 | benign | -1.216 | Destabilizing | 0.782 | D | 0.673 | neutral | N | 0.519980312 | None | None | N |
| V/G | 0.1733 | likely_benign | 0.1575 | benign | -1.923 | Destabilizing | 0.879 | D | 0.725 | prob.delet. | N | 0.405462727 | None | None | N |
| V/H | 0.5223 | ambiguous | 0.4907 | ambiguous | -1.589 | Destabilizing | 0.991 | D | 0.774 | deleterious | None | None | None | None | N |
| V/I | 0.0813 | likely_benign | 0.0773 | benign | -0.815 | Destabilizing | 0.003 | N | 0.171 | neutral | N | 0.511611545 | None | None | N |
| V/K | 0.2588 | likely_benign | 0.2667 | benign | -1.513 | Destabilizing | 0.906 | D | 0.725 | prob.delet. | None | None | None | None | N |
| V/L | 0.1384 | likely_benign | 0.1228 | benign | -0.815 | Destabilizing | 0.001 | N | 0.188 | neutral | N | 0.437748504 | None | None | N |
| V/M | 0.1311 | likely_benign | 0.1153 | benign | -0.513 | Destabilizing | 0.826 | D | 0.565 | neutral | None | None | None | None | N |
| V/N | 0.2388 | likely_benign | 0.2155 | benign | -1.23 | Destabilizing | 0.967 | D | 0.759 | deleterious | None | None | None | None | N |
| V/P | 0.7511 | likely_pathogenic | 0.6991 | pathogenic | -1.045 | Destabilizing | 0.967 | D | 0.742 | deleterious | None | None | None | None | N |
| V/Q | 0.209 | likely_benign | 0.2082 | benign | -1.406 | Destabilizing | 0.967 | D | 0.741 | deleterious | None | None | None | None | N |
| V/R | 0.2188 | likely_benign | 0.2392 | benign | -0.942 | Destabilizing | 0.906 | D | 0.76 | deleterious | None | None | None | None | N |
| V/S | 0.1654 | likely_benign | 0.1552 | benign | -1.656 | Destabilizing | 0.906 | D | 0.687 | prob.neutral | None | None | None | None | N |
| V/T | 0.1496 | likely_benign | 0.1351 | benign | -1.56 | Destabilizing | 0.575 | D | 0.565 | neutral | None | None | None | None | N |
| V/W | 0.8121 | likely_pathogenic | 0.7919 | pathogenic | -1.471 | Destabilizing | 0.991 | D | 0.781 | deleterious | None | None | None | None | N |
| V/Y | 0.4952 | ambiguous | 0.4761 | ambiguous | -1.214 | Destabilizing | 0.906 | D | 0.679 | prob.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.