Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18087 | 54484;54485;54486 | chr2:178604830;178604829;178604828 | chr2:179469557;179469556;179469555 |
| N2AB | 16446 | 49561;49562;49563 | chr2:178604830;178604829;178604828 | chr2:179469557;179469556;179469555 |
| N2A | 15519 | 46780;46781;46782 | chr2:178604830;178604829;178604828 | chr2:179469557;179469556;179469555 |
| N2B | 9022 | 27289;27290;27291 | chr2:178604830;178604829;178604828 | chr2:179469557;179469556;179469555 |
| Novex-1 | 9147 | 27664;27665;27666 | chr2:178604830;178604829;178604828 | chr2:179469557;179469556;179469555 |
| Novex-2 | 9214 | 27865;27866;27867 | chr2:178604830;178604829;178604828 | chr2:179469557;179469556;179469555 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs752954226  |
-0.586 | 1.0 | N | 0.489 | 0.292 | 0.262662153117 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 8.91E-06 | 0 |
| D/E | rs752954226 |
-0.586 | 1.0 | N | 0.489 | 0.292 | 0.262662153117 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.95E-05 | 0 | 0 |
| D/E | rs752954226 |
-0.586 | 1.0 | N | 0.489 | 0.292 | 0.262662153117 | gnomAD-4.0.0 | 6.41725E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56956E-05 | 0 | 9.58966E-06 | 0 | 0 |
| D/N | None | None | 1.0 | N | 0.621 | 0.297 | 0.301122078929 | gnomAD-4.0.0 | 1.36954E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80001E-06 | 0 | 0 |
| D/V | None | None | 1.0 | N | 0.864 | 0.506 | 0.49676076625 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.5357 | ambiguous | 0.5429 | ambiguous | -0.41 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.500453188 | None | None | N |
| D/C | 0.919 | likely_pathogenic | 0.9317 | pathogenic | -0.229 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| D/E | 0.3009 | likely_benign | 0.342 | ambiguous | -0.829 | Destabilizing | 1.0 | D | 0.489 | neutral | N | 0.463548239 | None | None | N |
| D/F | 0.9196 | likely_pathogenic | 0.9112 | pathogenic | -0.23 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| D/G | 0.5324 | ambiguous | 0.5546 | ambiguous | -0.74 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.509323388 | None | None | N |
| D/H | 0.7908 | likely_pathogenic | 0.7821 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.473623737 | None | None | N |
| D/I | 0.8396 | likely_pathogenic | 0.8467 | pathogenic | 0.451 | Stabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| D/K | 0.8671 | likely_pathogenic | 0.8767 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| D/L | 0.7831 | likely_pathogenic | 0.7911 | pathogenic | 0.451 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| D/M | 0.892 | likely_pathogenic | 0.899 | pathogenic | 0.859 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/N | 0.2804 | likely_benign | 0.3086 | benign | -0.853 | Destabilizing | 1.0 | D | 0.621 | neutral | N | 0.471381075 | None | None | N |
| D/P | 0.9916 | likely_pathogenic | 0.9895 | pathogenic | 0.19 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| D/Q | 0.7758 | likely_pathogenic | 0.7904 | pathogenic | -0.723 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| D/R | 0.8936 | likely_pathogenic | 0.8923 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| D/S | 0.3997 | ambiguous | 0.4169 | ambiguous | -1.082 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| D/T | 0.6283 | likely_pathogenic | 0.6691 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| D/V | 0.6544 | likely_pathogenic | 0.6652 | pathogenic | 0.19 | Stabilizing | 1.0 | D | 0.864 | deleterious | N | 0.500799905 | None | None | N |
| D/W | 0.9779 | likely_pathogenic | 0.9744 | pathogenic | -0.168 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| D/Y | 0.6765 | likely_pathogenic | 0.6447 | pathogenic | -0.041 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.51784687 | 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.