Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27461 | 82606;82607;82608 | chr2:178563751;178563750;178563749 | chr2:179428478;179428477;179428476 |
| N2AB | 25820 | 77683;77684;77685 | chr2:178563751;178563750;178563749 | chr2:179428478;179428477;179428476 |
| N2A | 24893 | 74902;74903;74904 | chr2:178563751;178563750;178563749 | chr2:179428478;179428477;179428476 |
| N2B | 18396 | 55411;55412;55413 | chr2:178563751;178563750;178563749 | chr2:179428478;179428477;179428476 |
| Novex-1 | 18521 | 55786;55787;55788 | chr2:178563751;178563750;178563749 | chr2:179428478;179428477;179428476 |
| Novex-2 | 18588 | 55987;55988;55989 | chr2:178563751;178563750;178563749 | chr2:179428478;179428477;179428476 |
| 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/D | None | None | 0.808 | D | 0.831 | 0.354 | 0.808510026337 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/I | None | None | 0.004 | N | 0.305 | 0.021 | 0.29132392195 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2944 | likely_benign | 0.2705 | benign | -1.511 | Destabilizing | 0.199 | N | 0.493 | neutral | D | 0.522684534 | None | None | N |
| V/C | 0.69 | likely_pathogenic | 0.6999 | pathogenic | -1.031 | Destabilizing | 0.992 | D | 0.682 | prob.neutral | None | None | None | None | N |
| V/D | 0.7865 | likely_pathogenic | 0.7629 | pathogenic | -1.354 | Destabilizing | 0.808 | D | 0.831 | deleterious | D | 0.536740319 | None | None | N |
| V/E | 0.5605 | ambiguous | 0.5156 | ambiguous | -1.242 | Destabilizing | 0.848 | D | 0.736 | deleterious | None | None | None | None | N |
| V/F | 0.2172 | likely_benign | 0.2273 | benign | -0.92 | Destabilizing | 0.009 | N | 0.451 | neutral | N | 0.521762328 | None | None | N |
| V/G | 0.4822 | ambiguous | 0.4736 | ambiguous | -1.944 | Destabilizing | 0.808 | D | 0.775 | deleterious | D | 0.536486829 | None | None | N |
| V/H | 0.7375 | likely_pathogenic | 0.7368 | pathogenic | -1.475 | Destabilizing | 0.992 | D | 0.834 | deleterious | None | None | None | None | N |
| V/I | 0.0734 | likely_benign | 0.0749 | benign | -0.377 | Destabilizing | 0.004 | N | 0.305 | neutral | N | 0.461655232 | None | None | N |
| V/K | 0.5622 | ambiguous | 0.5575 | ambiguous | -1.246 | Destabilizing | 0.848 | D | 0.734 | deleterious | None | None | None | None | N |
| V/L | 0.1839 | likely_benign | 0.1858 | benign | -0.377 | Destabilizing | 0.079 | N | 0.5 | neutral | D | 0.532979399 | None | None | N |
| V/M | 0.1377 | likely_benign | 0.1339 | benign | -0.332 | Destabilizing | 0.848 | D | 0.523 | neutral | None | None | None | None | N |
| V/N | 0.6237 | likely_pathogenic | 0.6133 | pathogenic | -1.295 | Destabilizing | 0.848 | D | 0.842 | deleterious | None | None | None | None | N |
| V/P | 0.962 | likely_pathogenic | 0.9663 | pathogenic | -0.721 | Destabilizing | 0.919 | D | 0.783 | deleterious | None | None | None | None | N |
| V/Q | 0.4957 | ambiguous | 0.4844 | ambiguous | -1.279 | Destabilizing | 0.919 | D | 0.784 | deleterious | None | None | None | None | N |
| V/R | 0.519 | ambiguous | 0.5224 | ambiguous | -0.917 | Destabilizing | 0.848 | D | 0.839 | deleterious | None | None | None | None | N |
| V/S | 0.4386 | ambiguous | 0.4222 | ambiguous | -1.922 | Destabilizing | 0.737 | D | 0.749 | deleterious | None | None | None | None | N |
| V/T | 0.2676 | likely_benign | 0.2412 | benign | -1.673 | Destabilizing | 0.005 | N | 0.328 | neutral | None | None | None | None | N |
| V/W | 0.8729 | likely_pathogenic | 0.8851 | pathogenic | -1.259 | Destabilizing | 0.992 | D | 0.836 | deleterious | None | None | None | None | N |
| V/Y | 0.6525 | likely_pathogenic | 0.657 | pathogenic | -0.881 | Destabilizing | 0.737 | D | 0.648 | 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.