Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15915 | 47968;47969;47970 | chr2:178617342;178617341;178617340 | chr2:179482069;179482068;179482067 |
| N2AB | 14274 | 43045;43046;43047 | chr2:178617342;178617341;178617340 | chr2:179482069;179482068;179482067 |
| N2A | 13347 | 40264;40265;40266 | chr2:178617342;178617341;178617340 | chr2:179482069;179482068;179482067 |
| N2B | 6850 | 20773;20774;20775 | chr2:178617342;178617341;178617340 | chr2:179482069;179482068;179482067 |
| Novex-1 | 6975 | 21148;21149;21150 | chr2:178617342;178617341;178617340 | chr2:179482069;179482068;179482067 |
| Novex-2 | 7042 | 21349;21350;21351 | chr2:178617342;178617341;178617340 | chr2:179482069;179482068;179482067 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | N | 0.693 | 0.434 | 0.61503831477 | gnomAD-4.0.0 | 6.99811E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.10016E-07 | 0 | 0 |
| P/T | None | None | 1.0 | N | 0.727 | 0.366 | 0.353974658523 | gnomAD-4.0.0 | 1.67857E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.96725E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1226 | likely_benign | 0.1299 | benign | -0.867 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | N | 0.473499592 | None | None | I |
| P/C | 0.6761 | likely_pathogenic | 0.6872 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| P/D | 0.3575 | ambiguous | 0.3542 | ambiguous | -0.53 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| P/E | 0.257 | likely_benign | 0.2583 | benign | -0.58 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| P/F | 0.7545 | likely_pathogenic | 0.7842 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | I |
| P/G | 0.259 | likely_benign | 0.2822 | benign | -1.086 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| P/H | 0.2422 | likely_benign | 0.2458 | benign | -0.467 | Destabilizing | 1.0 | D | 0.645 | neutral | N | 0.509757789 | None | None | I |
| P/I | 0.6327 | likely_pathogenic | 0.675 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| P/K | 0.2479 | likely_benign | 0.2536 | benign | -0.781 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| P/L | 0.2508 | likely_benign | 0.2751 | benign | -0.406 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.470132343 | None | None | I |
| P/M | 0.5204 | ambiguous | 0.561 | ambiguous | -0.497 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | I |
| P/N | 0.2892 | likely_benign | 0.3131 | benign | -0.637 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| P/Q | 0.1635 | likely_benign | 0.1717 | benign | -0.812 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | I |
| P/R | 0.196 | likely_benign | 0.1905 | benign | -0.239 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.47766196 | None | None | I |
| P/S | 0.1204 | likely_benign | 0.1271 | benign | -1.073 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.471907809 | None | None | I |
| P/T | 0.1431 | likely_benign | 0.1569 | benign | -1.013 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.463565228 | None | None | I |
| P/V | 0.4197 | ambiguous | 0.455 | ambiguous | -0.524 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| P/W | 0.7601 | likely_pathogenic | 0.7658 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | I |
| P/Y | 0.6129 | likely_pathogenic | 0.6437 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | 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.