Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28017 | 84274;84275;84276 | chr2:178562083;178562082;178562081 | chr2:179426810;179426809;179426808 |
| N2AB | 26376 | 79351;79352;79353 | chr2:178562083;178562082;178562081 | chr2:179426810;179426809;179426808 |
| N2A | 25449 | 76570;76571;76572 | chr2:178562083;178562082;178562081 | chr2:179426810;179426809;179426808 |
| N2B | 18952 | 57079;57080;57081 | chr2:178562083;178562082;178562081 | chr2:179426810;179426809;179426808 |
| Novex-1 | 19077 | 57454;57455;57456 | chr2:178562083;178562082;178562081 | chr2:179426810;179426809;179426808 |
| Novex-2 | 19144 | 57655;57656;57657 | chr2:178562083;178562082;178562081 | chr2:179426810;179426809;179426808 |
| 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/I | rs777711368  |
-0.36 | 0.166 | N | 0.343 | 0.08 | 0.510872562601 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.99E-06 | 0 |
| V/I | rs777711368 |
-0.36 | 0.166 | N | 0.343 | 0.08 | 0.510872562601 | gnomAD-4.0.0 | 3.18518E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85997E-06 | 1.43406E-05 | 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 | 0.1132 | likely_benign | 0.1267 | benign | -1.379 | Destabilizing | 0.08 | N | 0.246 | neutral | N | 0.474240527 | None | None | N |
| V/C | 0.5051 | ambiguous | 0.5349 | ambiguous | -1.257 | Destabilizing | 0.965 | D | 0.52 | neutral | None | None | None | None | N |
| V/D | 0.2784 | likely_benign | 0.3 | benign | -1.021 | Destabilizing | 0.561 | D | 0.616 | neutral | None | None | None | None | N |
| V/E | 0.2028 | likely_benign | 0.2237 | benign | -1.034 | Destabilizing | 0.491 | N | 0.57 | neutral | N | 0.449496798 | None | None | N |
| V/F | 0.1042 | likely_benign | 0.1179 | benign | -1.279 | Destabilizing | 0.561 | D | 0.568 | neutral | None | None | None | None | N |
| V/G | 0.1697 | likely_benign | 0.1825 | benign | -1.651 | Destabilizing | 0.166 | N | 0.557 | neutral | N | 0.443418975 | None | None | N |
| V/H | 0.3155 | likely_benign | 0.3538 | ambiguous | -1.177 | Destabilizing | 0.965 | D | 0.583 | neutral | None | None | None | None | N |
| V/I | 0.0714 | likely_benign | 0.07 | benign | -0.745 | Destabilizing | 0.166 | N | 0.343 | neutral | N | 0.45782828 | None | None | N |
| V/K | 0.2447 | likely_benign | 0.2778 | benign | -0.945 | Destabilizing | 0.561 | D | 0.575 | neutral | None | None | None | None | N |
| V/L | 0.1209 | likely_benign | 0.1319 | benign | -0.745 | Destabilizing | None | N | 0.117 | neutral | N | 0.406074095 | None | None | N |
| V/M | 0.0848 | likely_benign | 0.0891 | benign | -0.692 | Destabilizing | 0.818 | D | 0.446 | neutral | None | None | None | None | N |
| V/N | 0.1627 | likely_benign | 0.1659 | benign | -0.809 | Destabilizing | 0.561 | D | 0.609 | neutral | None | None | None | None | N |
| V/P | 0.8883 | likely_pathogenic | 0.8981 | pathogenic | -0.922 | Destabilizing | 0.722 | D | 0.603 | neutral | None | None | None | None | N |
| V/Q | 0.1973 | likely_benign | 0.223 | benign | -1.014 | Destabilizing | 0.818 | D | 0.604 | neutral | None | None | None | None | N |
| V/R | 0.2192 | likely_benign | 0.2564 | benign | -0.498 | Destabilizing | 0.561 | D | 0.627 | neutral | None | None | None | None | N |
| V/S | 0.1154 | likely_benign | 0.1226 | benign | -1.391 | Destabilizing | 0.002 | N | 0.287 | neutral | None | None | None | None | N |
| V/T | 0.1013 | likely_benign | 0.1067 | benign | -1.292 | Destabilizing | 0.007 | N | 0.121 | neutral | None | None | None | None | N |
| V/W | 0.6064 | likely_pathogenic | 0.6716 | pathogenic | -1.388 | Destabilizing | 0.991 | D | 0.593 | neutral | None | None | None | None | N |
| V/Y | 0.318 | likely_benign | 0.3522 | ambiguous | -1.063 | Destabilizing | 0.901 | D | 0.541 | 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.