Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14190 | 42793;42794;42795 | chr2:178633931;178633930;178633929 | chr2:179498658;179498657;179498656 |
| N2AB | 12549 | 37870;37871;37872 | chr2:178633931;178633930;178633929 | chr2:179498658;179498657;179498656 |
| N2A | 11622 | 35089;35090;35091 | chr2:178633931;178633930;178633929 | chr2:179498658;179498657;179498656 |
| N2B | 5125 | 15598;15599;15600 | chr2:178633931;178633930;178633929 | chr2:179498658;179498657;179498656 |
| Novex-1 | 5250 | 15973;15974;15975 | chr2:178633931;178633930;178633929 | chr2:179498658;179498657;179498656 |
| Novex-2 | 5317 | 16174;16175;16176 | chr2:178633931;178633930;178633929 | chr2:179498658;179498657;179498656 |
| 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/F | rs755022543  |
-0.791 | 0.927 | N | 0.495 | 0.407 | 0.660917529295 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| S/Y | None | None | 0.863 | N | 0.487 | 0.334 | 0.64097366104 | gnomAD-4.0.0 | 9.60269E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.18763E-06 | 0 | 3.66327E-05 |
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 | 0.0918 | likely_benign | 0.0913 | benign | -0.439 | Destabilizing | 0.27 | N | 0.321 | neutral | N | 0.510772632 | None | None | N |
| S/C | 0.113 | likely_benign | 0.1148 | benign | -0.301 | Destabilizing | 0.993 | D | 0.455 | neutral | N | 0.506193229 | None | None | N |
| S/D | 0.346 | ambiguous | 0.4096 | ambiguous | -0.115 | Destabilizing | 0.704 | D | 0.369 | neutral | None | None | None | None | N |
| S/E | 0.4229 | ambiguous | 0.502 | ambiguous | -0.162 | Destabilizing | 0.329 | N | 0.352 | neutral | None | None | None | None | N |
| S/F | 0.1212 | likely_benign | 0.1231 | benign | -0.73 | Destabilizing | 0.927 | D | 0.495 | neutral | N | 0.511214043 | None | None | N |
| S/G | 0.1205 | likely_benign | 0.1388 | benign | -0.642 | Destabilizing | 0.495 | N | 0.358 | neutral | None | None | None | None | N |
| S/H | 0.1585 | likely_benign | 0.2041 | benign | -1.154 | Destabilizing | 0.007 | N | 0.197 | neutral | None | None | None | None | N |
| S/I | 0.1327 | likely_benign | 0.1437 | benign | -0.022 | Destabilizing | 0.893 | D | 0.487 | neutral | None | None | None | None | N |
| S/K | 0.4534 | ambiguous | 0.5376 | ambiguous | -0.722 | Destabilizing | 0.329 | N | 0.357 | neutral | None | None | None | None | N |
| S/L | 0.1096 | likely_benign | 0.1087 | benign | -0.022 | Destabilizing | 0.543 | D | 0.433 | neutral | None | None | None | None | N |
| S/M | 0.191 | likely_benign | 0.2173 | benign | 0.169 | Stabilizing | 0.981 | D | 0.466 | neutral | None | None | None | None | N |
| S/N | 0.1215 | likely_benign | 0.1401 | benign | -0.493 | Destabilizing | 0.704 | D | 0.392 | neutral | None | None | None | None | N |
| S/P | 0.855 | likely_pathogenic | 0.873 | pathogenic | -0.128 | Destabilizing | 0.784 | D | 0.467 | neutral | D | 0.597154858 | None | None | N |
| S/Q | 0.343 | ambiguous | 0.4197 | ambiguous | -0.671 | Destabilizing | 0.085 | N | 0.287 | neutral | None | None | None | None | N |
| S/R | 0.3316 | likely_benign | 0.4059 | ambiguous | -0.55 | Destabilizing | 0.031 | N | 0.291 | neutral | None | None | None | None | N |
| S/T | 0.0677 | likely_benign | 0.0727 | benign | -0.514 | Destabilizing | 0.01 | N | 0.129 | neutral | N | 0.480117014 | None | None | N |
| S/V | 0.1588 | likely_benign | 0.1782 | benign | -0.128 | Destabilizing | 0.543 | D | 0.437 | neutral | None | None | None | None | N |
| S/W | 0.2358 | likely_benign | 0.2709 | benign | -0.752 | Destabilizing | 0.995 | D | 0.523 | neutral | None | None | None | None | N |
| S/Y | 0.1142 | likely_benign | 0.1264 | benign | -0.492 | Destabilizing | 0.863 | D | 0.487 | neutral | N | 0.505640796 | 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.