Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30605 | 92038;92039;92040 | chr2:178550025;178550024;178550023 | chr2:179414752;179414751;179414750 |
| N2AB | 28964 | 87115;87116;87117 | chr2:178550025;178550024;178550023 | chr2:179414752;179414751;179414750 |
| N2A | 28037 | 84334;84335;84336 | chr2:178550025;178550024;178550023 | chr2:179414752;179414751;179414750 |
| N2B | 21540 | 64843;64844;64845 | chr2:178550025;178550024;178550023 | chr2:179414752;179414751;179414750 |
| Novex-1 | 21665 | 65218;65219;65220 | chr2:178550025;178550024;178550023 | chr2:179414752;179414751;179414750 |
| Novex-2 | 21732 | 65419;65420;65421 | chr2:178550025;178550024;178550023 | chr2:179414752;179414751;179414750 |
| 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/C | None | None | 1.0 | N | 0.701 | 0.485 | 0.499921029546 | gnomAD-4.0.0 | 6.00162E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56252E-06 | 0 | 0 |
| S/P | rs984360776  |
None | 1.0 | N | 0.703 | 0.584 | 0.490074841992 | gnomAD-4.0.0 | 6.85404E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16274E-05 | 0 |
| S/T | rs984360776 |
0.019 | 0.999 | N | 0.569 | 0.317 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| S/T | rs984360776 |
0.019 | 0.999 | N | 0.569 | 0.317 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| S/T | rs984360776 |
0.019 | 0.999 | N | 0.569 | 0.317 | None | gnomAD-4.0.0 | 5.89642E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.38634E-05 | 0 | 1.28279E-04 |
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 | 0.0803 | likely_benign | 0.0846 | benign | -0.217 | Destabilizing | 0.997 | D | 0.633 | neutral | N | 0.424811784 | None | None | I |
| S/C | 0.0925 | likely_benign | 0.0945 | benign | -0.327 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.503160712 | None | None | I |
| S/D | 0.8394 | likely_pathogenic | 0.8346 | pathogenic | -0.088 | Destabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | I |
| S/E | 0.8946 | likely_pathogenic | 0.8827 | pathogenic | -0.201 | Destabilizing | 0.999 | D | 0.663 | neutral | None | None | None | None | I |
| S/F | 0.2694 | likely_benign | 0.3125 | benign | -1.0 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.463986248 | None | None | I |
| S/G | 0.1225 | likely_benign | 0.1249 | benign | -0.23 | Destabilizing | 0.999 | D | 0.577 | neutral | None | None | None | None | I |
| S/H | 0.6455 | likely_pathogenic | 0.6341 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| S/I | 0.2841 | likely_benign | 0.2858 | benign | -0.305 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | I |
| S/K | 0.9581 | likely_pathogenic | 0.9518 | pathogenic | -0.356 | Destabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | I |
| S/L | 0.1483 | likely_benign | 0.1666 | benign | -0.305 | Destabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | I |
| S/M | 0.2654 | likely_benign | 0.2832 | benign | -0.166 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | I |
| S/N | 0.3355 | likely_benign | 0.3181 | benign | -0.1 | Destabilizing | 0.999 | D | 0.66 | neutral | None | None | None | None | I |
| S/P | 0.8413 | likely_pathogenic | 0.8245 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.485834595 | None | None | I |
| S/Q | 0.8134 | likely_pathogenic | 0.7968 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| S/R | 0.9182 | likely_pathogenic | 0.9109 | pathogenic | -0.151 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | I |
| S/T | 0.1235 | likely_benign | 0.1294 | benign | -0.218 | Destabilizing | 0.999 | D | 0.569 | neutral | N | 0.497674747 | None | None | I |
| S/V | 0.225 | likely_benign | 0.2344 | benign | -0.255 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| S/W | 0.5398 | ambiguous | 0.5643 | pathogenic | -1.088 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| S/Y | 0.3288 | likely_benign | 0.344 | ambiguous | -0.776 | Destabilizing | 1.0 | D | 0.74 | deleterious | N | 0.467546628 | None | None | I |
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.