Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23737 | 71434;71435;71436 | chr2:178574923;178574922;178574921 | chr2:179439650;179439649;179439648 |
| N2AB | 22096 | 66511;66512;66513 | chr2:178574923;178574922;178574921 | chr2:179439650;179439649;179439648 |
| N2A | 21169 | 63730;63731;63732 | chr2:178574923;178574922;178574921 | chr2:179439650;179439649;179439648 |
| N2B | 14672 | 44239;44240;44241 | chr2:178574923;178574922;178574921 | chr2:179439650;179439649;179439648 |
| Novex-1 | 14797 | 44614;44615;44616 | chr2:178574923;178574922;178574921 | chr2:179439650;179439649;179439648 |
| Novex-2 | 14864 | 44815;44816;44817 | chr2:178574923;178574922;178574921 | chr2:179439650;179439649;179439648 |
| 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/G | None | None | 0.944 | N | 0.596 | 0.3 | 0.26169431596 | gnomAD-4.0.0 | 1.59329E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86094E-06 | 0 | 0 |
| D/N | rs758836824  |
0.108 | 0.967 | N | 0.53 | 0.242 | 0.344945010812 | gnomAD-2.1.1 | 8.11E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.8E-05 | 0 |
| D/N | rs758836824 |
0.108 | 0.967 | N | 0.53 | 0.242 | 0.344945010812 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs758836824 |
0.108 | 0.967 | N | 0.53 | 0.242 | 0.344945010812 | gnomAD-4.0.0 | 9.30118E-06 | None | None | None | None | N | None | 1.33554E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18706E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1876 | likely_benign | 0.2089 | benign | -0.624 | Destabilizing | 0.892 | D | 0.595 | neutral | N | 0.478845765 | None | None | N |
| D/C | 0.5546 | ambiguous | 0.5938 | pathogenic | -0.103 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| D/E | 0.1103 | likely_benign | 0.1225 | benign | -0.383 | Destabilizing | 0.025 | N | 0.211 | neutral | N | 0.438748582 | None | None | N |
| D/F | 0.6256 | likely_pathogenic | 0.6527 | pathogenic | -0.373 | Destabilizing | 0.975 | D | 0.73 | prob.delet. | None | None | None | None | N |
| D/G | 0.2313 | likely_benign | 0.2542 | benign | -0.871 | Destabilizing | 0.944 | D | 0.596 | neutral | N | 0.481694069 | None | None | N |
| D/H | 0.2689 | likely_benign | 0.2842 | benign | -0.342 | Destabilizing | 0.995 | D | 0.605 | neutral | N | 0.502973419 | None | None | N |
| D/I | 0.2746 | likely_benign | 0.2954 | benign | 0.001 | Stabilizing | 0.95 | D | 0.718 | prob.delet. | None | None | None | None | N |
| D/K | 0.3446 | ambiguous | 0.3663 | ambiguous | 0.143 | Stabilizing | 0.845 | D | 0.601 | neutral | None | None | None | None | N |
| D/L | 0.2953 | likely_benign | 0.3248 | benign | 0.001 | Stabilizing | 0.073 | N | 0.399 | neutral | None | None | None | None | N |
| D/M | 0.481 | ambiguous | 0.5274 | ambiguous | 0.304 | Stabilizing | 0.993 | D | 0.703 | prob.neutral | None | None | None | None | N |
| D/N | 0.1026 | likely_benign | 0.1136 | benign | -0.329 | Destabilizing | 0.967 | D | 0.53 | neutral | N | 0.512323621 | None | None | N |
| D/P | 0.8868 | likely_pathogenic | 0.8757 | pathogenic | -0.185 | Destabilizing | 0.987 | D | 0.668 | neutral | None | None | None | None | N |
| D/Q | 0.2641 | likely_benign | 0.2996 | benign | -0.264 | Destabilizing | 0.95 | D | 0.545 | neutral | None | None | None | None | N |
| D/R | 0.4248 | ambiguous | 0.4338 | ambiguous | 0.317 | Stabilizing | 0.975 | D | 0.721 | prob.delet. | None | None | None | None | N |
| D/S | 0.1197 | likely_benign | 0.1296 | benign | -0.456 | Destabilizing | 0.916 | D | 0.519 | neutral | None | None | None | None | N |
| D/T | 0.172 | likely_benign | 0.1945 | benign | -0.251 | Destabilizing | 0.975 | D | 0.603 | neutral | None | None | None | None | N |
| D/V | 0.1762 | likely_benign | 0.1802 | benign | -0.185 | Destabilizing | 0.935 | D | 0.62 | neutral | N | 0.463588311 | None | None | N |
| D/W | 0.89 | likely_pathogenic | 0.8987 | pathogenic | -0.138 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| D/Y | 0.3031 | likely_benign | 0.3004 | benign | -0.114 | Destabilizing | 0.983 | D | 0.723 | prob.delet. | N | 0.509072672 | 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.