Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4633 | 14122;14123;14124 | chr2:178739336;178739335;178739334 | chr2:179604063;179604062;179604061 |
| N2AB | 4316 | 13171;13172;13173 | chr2:178739336;178739335;178739334 | chr2:179604063;179604062;179604061 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 4270 | 13033;13034;13035 | chr2:178739336;178739335;178739334 | chr2:179604063;179604062;179604061 |
| Novex-1 | 4395 | 13408;13409;13410 | chr2:178739336;178739335;178739334 | chr2:179604063;179604062;179604061 |
| Novex-2 | 4462 | 13609;13610;13611 | chr2:178739336;178739335;178739334 | chr2:179604063;179604062;179604061 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs773833776  |
-1.342 | None | D | 0.188 | 0.212 | None | gnomAD-2.1.1 | 3.57E-05 | None | None | None | None | N | None | 0 | 0 | None | 6.77376E-04 | 0 | None | 0 | None | 0 | 2.35E-05 | 0 |
| K/E | rs773833776 |
-1.342 | None | D | 0.188 | 0.212 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 8.64553E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/E | rs773833776 |
-1.342 | None | D | 0.188 | 0.212 | None | gnomAD-4.0.0 | 1.30135E-05 | None | None | None | None | N | None | 0 | 0 | None | 4.39189E-04 | 0 | None | 0 | 0 | 4.23798E-06 | 0 | 4.804E-05 |
| K/I | rs555756236 |
0.589 | 0.171 | N | 0.717 | 0.291 | None | gnomAD-2.1.1 | 6.84E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 9.50145E-04 | None | 0 | None | 0 | 0 | 0 |
| K/I | rs555756236 |
0.589 | 0.171 | N | 0.717 | 0.291 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 9.6302E-04 | None | 0 | 0 | 0 | 0 | 0 |
| K/I | rs555756236 |
0.589 | 0.171 | N | 0.717 | 0.291 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| K/I | rs555756236 |
0.589 | 0.171 | N | 0.717 | 0.291 | None | gnomAD-4.0.0 | 3.96576E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.42787E-03 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.2337 | likely_benign | 0.2654 | benign | 0.03 | Stabilizing | None | N | 0.313 | neutral | None | None | None | None | N |
| K/C | 0.6794 | likely_pathogenic | 0.74 | pathogenic | -0.153 | Destabilizing | 0.864 | D | 0.662 | neutral | None | None | None | None | N |
| K/D | 0.3732 | ambiguous | 0.4167 | ambiguous | -0.036 | Destabilizing | 0.038 | N | 0.57 | neutral | None | None | None | None | N |
| K/E | 0.1003 | likely_benign | 0.1089 | benign | -0.028 | Destabilizing | None | N | 0.188 | neutral | D | 0.57086579 | None | None | N |
| K/F | 0.7206 | likely_pathogenic | 0.7862 | pathogenic | -0.147 | Destabilizing | 0.628 | D | 0.711 | prob.delet. | None | None | None | None | N |
| K/G | 0.2778 | likely_benign | 0.319 | benign | -0.172 | Destabilizing | 0.016 | N | 0.527 | neutral | None | None | None | None | N |
| K/H | 0.3295 | likely_benign | 0.3858 | ambiguous | -0.422 | Destabilizing | 0.356 | N | 0.663 | neutral | None | None | None | None | N |
| K/I | 0.3393 | likely_benign | 0.3961 | ambiguous | 0.486 | Stabilizing | 0.171 | N | 0.717 | prob.delet. | N | 0.508279029 | None | None | N |
| K/L | 0.3043 | likely_benign | 0.3611 | ambiguous | 0.486 | Stabilizing | 0.072 | N | 0.559 | neutral | None | None | None | None | N |
| K/M | 0.2063 | likely_benign | 0.2419 | benign | 0.203 | Stabilizing | 0.628 | D | 0.652 | neutral | None | None | None | None | N |
| K/N | 0.2692 | likely_benign | 0.3065 | benign | 0.246 | Stabilizing | 0.055 | N | 0.556 | neutral | D | 0.574569374 | None | None | N |
| K/P | 0.7292 | likely_pathogenic | 0.7756 | pathogenic | 0.361 | Stabilizing | 0.136 | N | 0.666 | neutral | None | None | None | None | N |
| K/Q | 0.1251 | likely_benign | 0.1378 | benign | 0.084 | Stabilizing | 0.029 | N | 0.565 | neutral | D | 0.573545 | None | None | N |
| K/R | 0.0872 | likely_benign | 0.0925 | benign | -0.044 | Destabilizing | None | N | 0.353 | neutral | N | 0.507897754 | None | None | N |
| K/S | 0.2551 | likely_benign | 0.2925 | benign | -0.196 | Destabilizing | None | N | 0.184 | neutral | None | None | None | None | N |
| K/T | 0.1319 | likely_benign | 0.1484 | benign | -0.044 | Destabilizing | 0.012 | N | 0.563 | neutral | N | 0.512280469 | None | None | N |
| K/V | 0.2768 | likely_benign | 0.3219 | benign | 0.361 | Stabilizing | 0.072 | N | 0.613 | neutral | None | None | None | None | N |
| K/W | 0.7244 | likely_pathogenic | 0.7906 | pathogenic | -0.183 | Destabilizing | 0.864 | D | 0.667 | neutral | None | None | None | None | N |
| K/Y | 0.5966 | likely_pathogenic | 0.672 | pathogenic | 0.161 | Stabilizing | 0.628 | D | 0.679 | prob.neutral | 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.