Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27236 | 81931;81932;81933 | chr2:178564426;178564425;178564424 | chr2:179429153;179429152;179429151 |
| N2AB | 25595 | 77008;77009;77010 | chr2:178564426;178564425;178564424 | chr2:179429153;179429152;179429151 |
| N2A | 24668 | 74227;74228;74229 | chr2:178564426;178564425;178564424 | chr2:179429153;179429152;179429151 |
| N2B | 18171 | 54736;54737;54738 | chr2:178564426;178564425;178564424 | chr2:179429153;179429152;179429151 |
| Novex-1 | 18296 | 55111;55112;55113 | chr2:178564426;178564425;178564424 | chr2:179429153;179429152;179429151 |
| Novex-2 | 18363 | 55312;55313;55314 | chr2:178564426;178564425;178564424 | chr2:179429153;179429152;179429151 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/L | rs763018145  |
-0.522 | 0.309 | N | 0.301 | 0.163 | 0.279370189704 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.31105E-04 | None | 0 | 0 | 0 |
| V/L | rs763018145 |
-0.522 | 0.309 | N | 0.301 | 0.163 | 0.279370189704 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 2.06954E-04 | 0 |
| V/L | rs763018145 |
-0.522 | 0.309 | N | 0.301 | 0.163 | 0.279370189704 | gnomAD-4.0.0 | 9.30021E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47877E-07 | 1.53745E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1561 | likely_benign | 0.1303 | benign | -0.985 | Destabilizing | 0.003 | N | 0.082 | neutral | N | 0.458566493 | None | None | N |
| V/C | 0.7615 | likely_pathogenic | 0.7563 | pathogenic | -0.732 | Destabilizing | 0.987 | D | 0.353 | neutral | None | None | None | None | N |
| V/D | 0.4813 | ambiguous | 0.4499 | ambiguous | -0.63 | Destabilizing | 0.742 | D | 0.376 | neutral | None | None | None | None | N |
| V/E | 0.3717 | ambiguous | 0.3578 | ambiguous | -0.681 | Destabilizing | 0.684 | D | 0.351 | neutral | N | 0.421277542 | None | None | N |
| V/F | 0.2539 | likely_benign | 0.2417 | benign | -0.878 | Destabilizing | 0.953 | D | 0.363 | neutral | None | None | None | None | N |
| V/G | 0.2573 | likely_benign | 0.2304 | benign | -1.221 | Destabilizing | 0.521 | D | 0.385 | neutral | N | 0.496874166 | None | None | N |
| V/H | 0.6128 | likely_pathogenic | 0.6018 | pathogenic | -0.64 | Destabilizing | 0.02 | N | 0.334 | neutral | None | None | None | None | N |
| V/I | 0.0789 | likely_benign | 0.0826 | benign | -0.474 | Destabilizing | 0.472 | N | 0.262 | neutral | N | 0.393536367 | None | None | N |
| V/K | 0.4135 | ambiguous | 0.3884 | ambiguous | -0.789 | Destabilizing | 0.742 | D | 0.41 | neutral | None | None | None | None | N |
| V/L | 0.2063 | likely_benign | 0.2046 | benign | -0.474 | Destabilizing | 0.309 | N | 0.301 | neutral | N | 0.428051586 | None | None | N |
| V/M | 0.1436 | likely_benign | 0.1412 | benign | -0.447 | Destabilizing | 0.984 | D | 0.344 | neutral | None | None | None | None | N |
| V/N | 0.2785 | likely_benign | 0.2608 | benign | -0.568 | Destabilizing | 0.742 | D | 0.384 | neutral | None | None | None | None | N |
| V/P | 0.778 | likely_pathogenic | 0.7046 | pathogenic | -0.608 | Destabilizing | 0.953 | D | 0.382 | neutral | None | None | None | None | N |
| V/Q | 0.339 | likely_benign | 0.3313 | benign | -0.764 | Destabilizing | 0.953 | D | 0.398 | neutral | None | None | None | None | N |
| V/R | 0.3975 | ambiguous | 0.3697 | ambiguous | -0.236 | Destabilizing | 0.91 | D | 0.399 | neutral | None | None | None | None | N |
| V/S | 0.1861 | likely_benign | 0.1606 | benign | -1.025 | Destabilizing | 0.373 | N | 0.357 | neutral | None | None | None | None | N |
| V/T | 0.1006 | likely_benign | 0.0923 | benign | -0.964 | Destabilizing | 0.005 | N | 0.072 | neutral | None | None | None | None | N |
| V/W | 0.8718 | likely_pathogenic | 0.8662 | pathogenic | -0.991 | Destabilizing | 0.996 | D | 0.425 | neutral | None | None | None | None | N |
| V/Y | 0.6595 | likely_pathogenic | 0.655 | pathogenic | -0.701 | Destabilizing | 0.91 | D | 0.375 | 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.