Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8385 | 25378;25379;25380 | chr2:178717721;178717720;178717719 | chr2:179582448;179582447;179582446 |
| N2AB | 8068 | 24427;24428;24429 | chr2:178717721;178717720;178717719 | chr2:179582448;179582447;179582446 |
| N2A | 7141 | 21646;21647;21648 | chr2:178717721;178717720;178717719 | chr2:179582448;179582447;179582446 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs775560531  |
-0.018 | 0.999 | D | 0.608 | 0.582 | 0.518199804421 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.63741E-04 | None | 0 | 0 | 0 |
| G/A | rs775560531 |
-0.018 | 0.999 | D | 0.608 | 0.582 | 0.518199804421 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07555E-04 | 0 |
| G/A | rs775560531 |
-0.018 | 0.999 | D | 0.608 | 0.582 | 0.518199804421 | gnomAD-4.0.0 | 1.42573E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.41694E-04 | 1.60179E-05 |
| G/C | None | None | 1.0 | D | 0.688 | 0.629 | 0.824748956951 | gnomAD-4.0.0 | 4.79094E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29744E-06 | 0 | 0 |
| G/S | rs1479989590 |
-0.269 | 1.0 | D | 0.783 | 0.605 | 0.53563189239 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| G/S | rs1479989590 |
-0.269 | 1.0 | D | 0.783 | 0.605 | 0.53563189239 | gnomAD-4.0.0 | 1.36884E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.3204E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6517 | likely_pathogenic | 0.7127 | pathogenic | -0.472 | Destabilizing | 0.999 | D | 0.608 | neutral | D | 0.552321049 | None | None | I |
| G/C | 0.9557 | likely_pathogenic | 0.9746 | pathogenic | -0.69 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | D | 0.623059829 | None | None | I |
| G/D | 0.9823 | likely_pathogenic | 0.9903 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.631367754 | None | None | I |
| G/E | 0.9863 | likely_pathogenic | 0.9938 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | I |
| G/F | 0.9936 | likely_pathogenic | 0.9965 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| G/H | 0.9956 | likely_pathogenic | 0.9978 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| G/I | 0.977 | likely_pathogenic | 0.9874 | pathogenic | -0.288 | Destabilizing | 0.998 | D | 0.467 | neutral | None | None | None | None | I |
| G/K | 0.9965 | likely_pathogenic | 0.9982 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| G/L | 0.9873 | likely_pathogenic | 0.9929 | pathogenic | -0.288 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| G/M | 0.9934 | likely_pathogenic | 0.9966 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | I |
| G/N | 0.9874 | likely_pathogenic | 0.9935 | pathogenic | -0.571 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| G/P | 0.9975 | likely_pathogenic | 0.9984 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| G/Q | 0.9911 | likely_pathogenic | 0.9956 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | I |
| G/R | 0.9858 | likely_pathogenic | 0.9923 | pathogenic | -0.69 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | D | 0.648194332 | None | None | I |
| G/S | 0.7115 | likely_pathogenic | 0.7959 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.564473974 | None | None | I |
| G/T | 0.9393 | likely_pathogenic | 0.9619 | pathogenic | -0.815 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| G/V | 0.9517 | likely_pathogenic | 0.9716 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | D | 0.632174971 | None | None | I |
| G/W | 0.9917 | likely_pathogenic | 0.9959 | pathogenic | -1.248 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | I |
| G/Y | 0.9922 | likely_pathogenic | 0.9962 | pathogenic | -0.846 | Destabilizing | 0.998 | D | 0.469 | 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.