Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8822 | 26689;26690;26691 | chr2:178714310;178714309;178714308 | chr2:179579037;179579036;179579035 |
| N2AB | 8505 | 25738;25739;25740 | chr2:178714310;178714309;178714308 | chr2:179579037;179579036;179579035 |
| N2A | 7578 | 22957;22958;22959 | chr2:178714310;178714309;178714308 | chr2:179579037;179579036;179579035 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | None | None | 0.694 | N | 0.547 | 0.427 | 0.273070737957 | gnomAD-4.0.0 | 2.73873E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00163E-07 | 2.31976E-05 | 1.65722E-05 |
| A/T | rs184883436  |
-1.271 | 0.392 | N | 0.391 | 0.37 | None | gnomAD-2.1.1 | 9.29E-05 | None | None | None | None | N | None | 0 | 1.98098E-04 | None | 0 | 1.02407E-04 | None | 1.96412E-04 | None | 0 | 8.61E-05 | 0 |
| A/T | rs184883436 |
-1.271 | 0.392 | N | 0.391 | 0.37 | None | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 7.73994E-04 | None | 0 | 0 | 1.47E-05 | 2.07039E-04 | 0 |
| A/T | rs184883436 |
-1.271 | 0.392 | N | 0.391 | 0.37 | None | gnomAD-4.0.0 | 5.76658E-05 | None | None | None | None | N | None | 1.3339E-05 | 2.0002E-04 | None | 0 | 2.67618E-04 | None | 0 | 0 | 4.24118E-05 | 1.64759E-04 | 4.80384E-05 |
| A/V | rs753291479 |
-0.256 | 0.977 | D | 0.595 | 0.421 | 0.488897681448 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| A/V | rs753291479 |
-0.256 | 0.977 | D | 0.595 | 0.421 | 0.488897681448 | gnomAD-4.0.0 | 1.57463E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.98016E-05 | 0 | 1.65711E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5715 | likely_pathogenic | 0.6781 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| A/D | 0.8398 | likely_pathogenic | 0.8991 | pathogenic | -1.731 | Destabilizing | 0.988 | D | 0.873 | deleterious | D | 0.555029747 | None | None | N |
| A/E | 0.862 | likely_pathogenic | 0.9079 | pathogenic | -1.6 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/F | 0.7332 | likely_pathogenic | 0.7786 | pathogenic | -0.737 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| A/G | 0.1444 | likely_benign | 0.1654 | benign | -1.403 | Destabilizing | 0.701 | D | 0.573 | neutral | N | 0.515440648 | None | None | N |
| A/H | 0.8938 | likely_pathogenic | 0.9222 | pathogenic | -1.802 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| A/I | 0.5616 | ambiguous | 0.7083 | pathogenic | 0.141 | Stabilizing | 0.999 | D | 0.847 | deleterious | None | None | None | None | N |
| A/K | 0.9253 | likely_pathogenic | 0.9528 | pathogenic | -1.141 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/L | 0.4856 | ambiguous | 0.5799 | pathogenic | 0.141 | Stabilizing | 0.994 | D | 0.712 | prob.delet. | None | None | None | None | N |
| A/M | 0.5248 | ambiguous | 0.6217 | pathogenic | -0.05 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| A/N | 0.7462 | likely_pathogenic | 0.8353 | pathogenic | -1.221 | Destabilizing | 0.929 | D | 0.875 | deleterious | None | None | None | None | N |
| A/P | 0.9378 | likely_pathogenic | 0.9701 | pathogenic | -0.184 | Destabilizing | 0.998 | D | 0.861 | deleterious | D | 0.543673441 | None | None | N |
| A/Q | 0.8315 | likely_pathogenic | 0.8639 | pathogenic | -1.122 | Destabilizing | 0.999 | D | 0.869 | deleterious | None | None | None | None | N |
| A/R | 0.8696 | likely_pathogenic | 0.9027 | pathogenic | -1.156 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/S | 0.1228 | likely_benign | 0.14 | benign | -1.683 | Destabilizing | 0.694 | D | 0.547 | neutral | N | 0.496562698 | None | None | N |
| A/T | 0.163 | likely_benign | 0.212 | benign | -1.424 | Destabilizing | 0.392 | N | 0.391 | neutral | N | 0.508817603 | None | None | N |
| A/V | 0.2816 | likely_benign | 0.3869 | ambiguous | -0.184 | Destabilizing | 0.977 | D | 0.595 | neutral | D | 0.527037649 | None | None | N |
| A/W | 0.957 | likely_pathogenic | 0.9717 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/Y | 0.8597 | likely_pathogenic | 0.8984 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.888 | 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.