Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8383 | 25372;25373;25374 | chr2:178717727;178717726;178717725 | chr2:179582454;179582453;179582452 |
| N2AB | 8066 | 24421;24422;24423 | chr2:178717727;178717726;178717725 | chr2:179582454;179582453;179582452 |
| N2A | 7139 | 21640;21641;21642 | chr2:178717727;178717726;178717725 | chr2:179582454;179582453;179582452 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs555511234  |
-1.089 | 0.997 | N | 0.735 | 0.525 | 0.464098490096 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| I/M | rs555511234 |
-1.089 | 0.997 | N | 0.735 | 0.525 | 0.464098490096 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| I/M | rs555511234 |
-1.089 | 0.997 | N | 0.735 | 0.525 | 0.464098490096 | gnomAD-4.0.0 | 1.23968E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09876E-05 | 1.60133E-05 |
| I/T | rs760613642 |
-2.67 | 1.0 | N | 0.771 | 0.571 | 0.640746855568 | gnomAD-2.1.1 | 4.86E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.93185E-04 | None | 0 | 0 | 0 |
| I/T | rs760613642 |
-2.67 | 1.0 | N | 0.771 | 0.571 | 0.640746855568 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| I/T | rs760613642 |
-2.67 | 1.0 | N | 0.771 | 0.571 | 0.640746855568 | gnomAD-4.0.0 | 1.85958E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.29569E-04 | 0 |
| I/V | rs886038829 |
-1.412 | 0.069 | N | 0.249 | 0.085 | 0.316494231283 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs886038829 |
-1.412 | 0.069 | N | 0.249 | 0.085 | 0.316494231283 | gnomAD-4.0.0 | 3.18468E-06 | None | None | None | None | N | None | 0 | 2.28791E-05 | None | 0 | 2.77485E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9033 | likely_pathogenic | 0.9292 | pathogenic | -2.861 | Highly Destabilizing | 0.998 | D | 0.734 | prob.delet. | None | None | None | None | N |
| I/C | 0.9426 | likely_pathogenic | 0.957 | pathogenic | -1.738 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| I/D | 0.9971 | likely_pathogenic | 0.9984 | pathogenic | -3.236 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| I/E | 0.9899 | likely_pathogenic | 0.9936 | pathogenic | -2.942 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| I/F | 0.5448 | ambiguous | 0.6139 | pathogenic | -1.613 | Destabilizing | 0.494 | N | 0.405 | neutral | D | 0.523520128 | None | None | N |
| I/G | 0.9815 | likely_pathogenic | 0.9887 | pathogenic | -3.425 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| I/H | 0.9884 | likely_pathogenic | 0.9927 | pathogenic | -2.928 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| I/K | 0.9819 | likely_pathogenic | 0.9872 | pathogenic | -1.914 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| I/L | 0.1552 | likely_benign | 0.1692 | benign | -1.165 | Destabilizing | 0.473 | N | 0.483 | neutral | D | 0.524808207 | None | None | N |
| I/M | 0.2124 | likely_benign | 0.2311 | benign | -1.224 | Destabilizing | 0.997 | D | 0.735 | prob.delet. | N | 0.509248903 | None | None | N |
| I/N | 0.9614 | likely_pathogenic | 0.975 | pathogenic | -2.479 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.532468493 | None | None | N |
| I/P | 0.9874 | likely_pathogenic | 0.9911 | pathogenic | -1.722 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| I/Q | 0.9806 | likely_pathogenic | 0.9874 | pathogenic | -2.197 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| I/R | 0.974 | likely_pathogenic | 0.9828 | pathogenic | -1.859 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| I/S | 0.9515 | likely_pathogenic | 0.9691 | pathogenic | -3.063 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.491398138 | None | None | N |
| I/T | 0.9131 | likely_pathogenic | 0.9319 | pathogenic | -2.627 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.519863747 | None | None | N |
| I/V | 0.1101 | likely_benign | 0.1148 | benign | -1.722 | Destabilizing | 0.069 | N | 0.249 | neutral | N | 0.416552087 | None | None | N |
| I/W | 0.9816 | likely_pathogenic | 0.9881 | pathogenic | -1.985 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| I/Y | 0.945 | likely_pathogenic | 0.962 | pathogenic | -1.812 | Destabilizing | 0.999 | D | 0.825 | deleterious | 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.