Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6345 | 19258;19259;19260 | chr2:178729005;178729004;178729003 | chr2:179593732;179593731;179593730 |
| N2AB | 6028 | 18307;18308;18309 | chr2:178729005;178729004;178729003 | chr2:179593732;179593731;179593730 |
| N2A | 5101 | 15526;15527;15528 | chr2:178729005;178729004;178729003 | chr2:179593732;179593731;179593730 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | 0.56 | N | 0.424 | 0.293 | 0.433047596574 | gnomAD-4.0.0 | 6.84564E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99687E-07 | 0 | 0 |
| S/G | rs1447554517  |
-0.565 | 0.005 | N | 0.264 | 0.084 | 0.117506650769 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 2.92E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/G | rs1447554517 |
-0.565 | 0.005 | N | 0.264 | 0.084 | 0.117506650769 | gnomAD-4.0.0 | 1.36913E-06 | None | None | None | None | N | None | 0 | 2.24155E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65793E-05 |
| S/R | None | None | None | N | 0.206 | 0.11 | 0.115124310173 | gnomAD-4.0.0 | 1.59315E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86053E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1031 | likely_benign | 0.1069 | benign | -0.52 | Destabilizing | 0.014 | N | 0.296 | neutral | None | None | None | None | N |
| S/C | 0.1166 | likely_benign | 0.1198 | benign | -0.373 | Destabilizing | 0.56 | D | 0.424 | neutral | N | 0.504774997 | None | None | N |
| S/D | 0.1342 | likely_benign | 0.1413 | benign | 0.397 | Stabilizing | 0.007 | N | 0.263 | neutral | None | None | None | None | N |
| S/E | 0.284 | likely_benign | 0.2925 | benign | 0.412 | Stabilizing | 0.007 | N | 0.262 | neutral | None | None | None | None | N |
| S/F | 0.3125 | likely_benign | 0.3281 | benign | -0.82 | Destabilizing | 0.356 | N | 0.546 | neutral | None | None | None | None | N |
| S/G | 0.0579 | likely_benign | 0.0605 | benign | -0.761 | Destabilizing | 0.005 | N | 0.264 | neutral | N | 0.43599157 | None | None | N |
| S/H | 0.1367 | likely_benign | 0.1324 | benign | -1.149 | Destabilizing | None | N | 0.201 | neutral | None | None | None | None | N |
| S/I | 0.277 | likely_benign | 0.2817 | benign | 0.012 | Stabilizing | 0.106 | N | 0.541 | neutral | D | 0.533328903 | None | None | N |
| S/K | 0.2362 | likely_benign | 0.2311 | benign | -0.275 | Destabilizing | 0.007 | N | 0.265 | neutral | None | None | None | None | N |
| S/L | 0.1869 | likely_benign | 0.1897 | benign | 0.012 | Stabilizing | 0.031 | N | 0.463 | neutral | None | None | None | None | N |
| S/M | 0.2501 | likely_benign | 0.2513 | benign | -0.019 | Destabilizing | 0.628 | D | 0.437 | neutral | None | None | None | None | N |
| S/N | 0.0556 | likely_benign | 0.0551 | benign | -0.331 | Destabilizing | None | N | 0.119 | neutral | N | 0.373847033 | None | None | N |
| S/P | 0.5283 | ambiguous | 0.5339 | ambiguous | -0.131 | Destabilizing | 0.136 | N | 0.454 | neutral | None | None | None | None | N |
| S/Q | 0.2427 | likely_benign | 0.2417 | benign | -0.345 | Destabilizing | 0.031 | N | 0.311 | neutral | None | None | None | None | N |
| S/R | 0.2004 | likely_benign | 0.1942 | benign | -0.303 | Destabilizing | None | N | 0.206 | neutral | N | 0.493578436 | None | None | N |
| S/T | 0.0939 | likely_benign | 0.0976 | benign | -0.348 | Destabilizing | 0.005 | N | 0.31 | neutral | N | 0.462602168 | None | None | N |
| S/V | 0.2873 | likely_benign | 0.2916 | benign | -0.131 | Destabilizing | 0.136 | N | 0.481 | neutral | None | None | None | None | N |
| S/W | 0.3873 | ambiguous | 0.396 | ambiguous | -0.859 | Destabilizing | 0.864 | D | 0.532 | neutral | None | None | None | None | N |
| S/Y | 0.1603 | likely_benign | 0.1663 | benign | -0.522 | Destabilizing | 0.038 | N | 0.522 | 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.