Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7372 | 22339;22340;22341 | chr2:178722785;178722784;178722783 | chr2:179587512;179587511;179587510 |
| N2AB | 7055 | 21388;21389;21390 | chr2:178722785;178722784;178722783 | chr2:179587512;179587511;179587510 |
| N2A | 6128 | 18607;18608;18609 | chr2:178722785;178722784;178722783 | chr2:179587512;179587511;179587510 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/F | None | None | 0.006 | N | 0.178 | 0.215 | 0.283761946502 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| Y/H | rs1451672081  |
0.604 | 0.975 | N | 0.332 | 0.235 | 0.398727352345 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14732E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/H | rs1451672081 |
0.604 | 0.975 | N | 0.332 | 0.235 | 0.398727352345 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | rs1451672081 |
0.604 | 0.975 | N | 0.332 | 0.235 | 0.398727352345 | gnomAD-4.0.0 | 2.03005E-06 | None | None | None | None | N | None | 1.74746E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.205E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.3127 | likely_benign | 0.447 | ambiguous | -0.777 | Destabilizing | 0.329 | N | 0.351 | neutral | None | None | None | None | N |
| Y/C | 0.1334 | likely_benign | 0.1823 | benign | 0.085 | Stabilizing | 0.993 | D | 0.305 | neutral | N | 0.490959476 | None | None | N |
| Y/D | 0.2463 | likely_benign | 0.4421 | ambiguous | 0.764 | Stabilizing | 0.473 | N | 0.445 | neutral | N | 0.490169985 | None | None | N |
| Y/E | 0.5249 | ambiguous | 0.7248 | pathogenic | 0.754 | Stabilizing | 0.013 | N | 0.188 | neutral | None | None | None | None | N |
| Y/F | 0.0861 | likely_benign | 0.0958 | benign | -0.373 | Destabilizing | 0.006 | N | 0.178 | neutral | N | 0.422504985 | None | None | N |
| Y/G | 0.3777 | ambiguous | 0.5613 | ambiguous | -0.985 | Destabilizing | 0.704 | D | 0.437 | neutral | None | None | None | None | N |
| Y/H | 0.123 | likely_benign | 0.1868 | benign | 0.087 | Stabilizing | 0.975 | D | 0.332 | neutral | N | 0.472181657 | None | None | N |
| Y/I | 0.2727 | likely_benign | 0.3541 | ambiguous | -0.237 | Destabilizing | 0.031 | N | 0.216 | neutral | None | None | None | None | N |
| Y/K | 0.4917 | ambiguous | 0.6878 | pathogenic | 0.121 | Stabilizing | 0.704 | D | 0.424 | neutral | None | None | None | None | N |
| Y/L | 0.3463 | ambiguous | 0.4276 | ambiguous | -0.237 | Destabilizing | 0.003 | N | 0.159 | neutral | None | None | None | None | N |
| Y/M | 0.4963 | ambiguous | 0.5814 | pathogenic | -0.108 | Destabilizing | 0.893 | D | 0.336 | neutral | None | None | None | None | N |
| Y/N | 0.1436 | likely_benign | 0.2269 | benign | -0.055 | Destabilizing | 0.642 | D | 0.403 | neutral | N | 0.48322537 | None | None | N |
| Y/P | 0.9072 | likely_pathogenic | 0.9577 | pathogenic | -0.398 | Destabilizing | 0.981 | D | 0.389 | neutral | None | None | None | None | N |
| Y/Q | 0.3771 | ambiguous | 0.5514 | ambiguous | -0.006 | Destabilizing | 0.704 | D | 0.392 | neutral | None | None | None | None | N |
| Y/R | 0.3115 | likely_benign | 0.4902 | ambiguous | 0.37 | Stabilizing | 0.704 | D | 0.4 | neutral | None | None | None | None | N |
| Y/S | 0.1256 | likely_benign | 0.1947 | benign | -0.484 | Destabilizing | 0.065 | N | 0.263 | neutral | N | 0.394566235 | None | None | N |
| Y/T | 0.246 | likely_benign | 0.3497 | ambiguous | -0.398 | Destabilizing | 0.704 | D | 0.431 | neutral | None | None | None | None | N |
| Y/V | 0.2149 | likely_benign | 0.2737 | benign | -0.398 | Destabilizing | 0.329 | N | 0.343 | neutral | None | None | None | None | N |
| Y/W | 0.3633 | ambiguous | 0.428 | ambiguous | -0.46 | Destabilizing | 0.981 | D | 0.351 | 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.