Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7519 | 22780;22781;22782 | chr2:178722108;178722107;178722106 | chr2:179586835;179586834;179586833 |
| N2AB | 7202 | 21829;21830;21831 | chr2:178722108;178722107;178722106 | chr2:179586835;179586834;179586833 |
| N2A | 6275 | 19048;19049;19050 | chr2:178722108;178722107;178722106 | chr2:179586835;179586834;179586833 |
| 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/F | rs146608139  |
-1.329 | 0.473 | N | 0.267 | 0.197 | 0.517819333224 | gnomAD-2.1.1 | 4.56E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.88E-05 | None | 0 | None | 0 | 0 | 0 |
| I/L | rs146608139 |
-0.839 | 0.139 | N | 0.205 | 0.116 | None | gnomAD-2.1.1 | 4.56E-06 | None | None | None | None | I | None | 6.66E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/L | rs146608139 |
-0.839 | 0.139 | N | 0.205 | 0.116 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/L | rs146608139 |
-0.839 | 0.139 | N | 0.205 | 0.116 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | I | None | 1.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| I/L | rs146608139 |
-0.839 | 0.139 | N | 0.205 | 0.116 | None | gnomAD-4.0.0 | 4.43996E-06 | None | None | None | None | I | None | 9.52977E-05 | 0 | None | 0 | 0 | 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 | 0.4274 | ambiguous | 0.494 | ambiguous | -1.568 | Destabilizing | 0.176 | N | 0.309 | neutral | None | None | None | None | I |
| I/C | 0.7722 | likely_pathogenic | 0.8077 | pathogenic | -0.363 | Destabilizing | 0.995 | D | 0.341 | neutral | None | None | None | None | I |
| I/D | 0.6767 | likely_pathogenic | 0.7078 | pathogenic | -1.507 | Destabilizing | 0.704 | D | 0.412 | neutral | None | None | None | None | I |
| I/E | 0.4773 | ambiguous | 0.5061 | ambiguous | -1.551 | Destabilizing | 0.329 | N | 0.316 | neutral | None | None | None | None | I |
| I/F | 0.2045 | likely_benign | 0.2286 | benign | -1.336 | Destabilizing | 0.473 | N | 0.267 | neutral | N | 0.475608751 | None | None | I |
| I/G | 0.7099 | likely_pathogenic | 0.7517 | pathogenic | -1.839 | Destabilizing | 0.495 | N | 0.371 | neutral | None | None | None | None | I |
| I/H | 0.4684 | ambiguous | 0.5356 | ambiguous | -1.296 | Destabilizing | 0.944 | D | 0.396 | neutral | None | None | None | None | I |
| I/K | 0.2673 | likely_benign | 0.3042 | benign | -1.003 | Destabilizing | 0.003 | N | 0.187 | neutral | None | None | None | None | I |
| I/L | 0.1392 | likely_benign | 0.154 | benign | -0.896 | Destabilizing | 0.139 | N | 0.205 | neutral | N | 0.418349959 | None | None | I |
| I/M | 0.1145 | likely_benign | 0.1291 | benign | -0.354 | Destabilizing | 0.975 | D | 0.328 | neutral | N | 0.482342722 | None | None | I |
| I/N | 0.3004 | likely_benign | 0.337 | benign | -0.604 | Destabilizing | 0.642 | D | 0.411 | neutral | N | 0.456329557 | None | None | I |
| I/P | 0.9487 | likely_pathogenic | 0.9514 | pathogenic | -1.092 | Destabilizing | 0.828 | D | 0.412 | neutral | None | None | None | None | I |
| I/Q | 0.3366 | likely_benign | 0.3886 | ambiguous | -0.861 | Destabilizing | 0.085 | N | 0.26 | neutral | None | None | None | None | I |
| I/R | 0.211 | likely_benign | 0.2522 | benign | -0.36 | Destabilizing | 0.003 | N | 0.195 | neutral | None | None | None | None | I |
| I/S | 0.3283 | likely_benign | 0.3877 | ambiguous | -1.005 | Destabilizing | 0.27 | N | 0.316 | neutral | N | 0.392875511 | None | None | I |
| I/T | 0.2742 | likely_benign | 0.3032 | benign | -0.96 | Destabilizing | 0.01 | N | 0.173 | neutral | N | 0.395241026 | None | None | I |
| I/V | 0.0924 | likely_benign | 0.1046 | benign | -1.092 | Destabilizing | 0.139 | N | 0.244 | neutral | N | 0.399052122 | None | None | I |
| I/W | 0.7396 | likely_pathogenic | 0.7586 | pathogenic | -1.465 | Destabilizing | 0.995 | D | 0.364 | neutral | None | None | None | None | I |
| I/Y | 0.528 | ambiguous | 0.5491 | ambiguous | -1.265 | Destabilizing | 0.031 | N | 0.201 | 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.