Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16324 | 49195;49196;49197 | chr2:178614544;178614543;178614542 | chr2:179479271;179479270;179479269 |
| N2AB | 14683 | 44272;44273;44274 | chr2:178614544;178614543;178614542 | chr2:179479271;179479270;179479269 |
| N2A | 13756 | 41491;41492;41493 | chr2:178614544;178614543;178614542 | chr2:179479271;179479270;179479269 |
| N2B | 7259 | 22000;22001;22002 | chr2:178614544;178614543;178614542 | chr2:179479271;179479270;179479269 |
| Novex-1 | 7384 | 22375;22376;22377 | chr2:178614544;178614543;178614542 | chr2:179479271;179479270;179479269 |
| Novex-2 | 7451 | 22576;22577;22578 | chr2:178614544;178614543;178614542 | chr2:179479271;179479270;179479269 |
| 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/I | rs878948684  |
0.109 | 0.976 | D | 0.385 | 0.305 | None | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| S/I | rs878948684 |
0.109 | 0.976 | D | 0.385 | 0.305 | None | gnomAD-4.0.0 | 7.53197E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.89869E-06 | 0 | 0 |
| S/R | rs774497699 |
0.205 | 0.988 | N | 0.331 | 0.24 | 0.225902525712 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| S/R | rs774497699 |
0.205 | 0.988 | N | 0.331 | 0.24 | 0.225902525712 | gnomAD-4.0.0 | 3.18801E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72492E-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 | 0.0732 | likely_benign | 0.0784 | benign | -0.257 | Destabilizing | 0.863 | D | 0.451 | neutral | None | None | None | None | N |
| S/C | 0.1354 | likely_benign | 0.1343 | benign | -0.233 | Destabilizing | 0.999 | D | 0.347 | neutral | D | 0.603061939 | None | None | N |
| S/D | 0.2986 | likely_benign | 0.2825 | benign | 0.108 | Stabilizing | 0.02 | N | 0.197 | neutral | None | None | None | None | N |
| S/E | 0.3716 | ambiguous | 0.3288 | benign | 0.001 | Stabilizing | 0.759 | D | 0.348 | neutral | None | None | None | None | N |
| S/F | 0.2765 | likely_benign | 0.2842 | benign | -0.929 | Destabilizing | 0.997 | D | 0.389 | neutral | None | None | None | None | N |
| S/G | 0.0852 | likely_benign | 0.0877 | benign | -0.334 | Destabilizing | 0.826 | D | 0.352 | neutral | N | 0.453331328 | None | None | N |
| S/H | 0.4087 | ambiguous | 0.3963 | ambiguous | -0.763 | Destabilizing | 0.997 | D | 0.329 | neutral | None | None | None | None | N |
| S/I | 0.1795 | likely_benign | 0.1801 | benign | -0.186 | Destabilizing | 0.976 | D | 0.385 | neutral | D | 0.539998181 | None | None | N |
| S/K | 0.6548 | likely_pathogenic | 0.6248 | pathogenic | -0.397 | Destabilizing | 0.939 | D | 0.315 | neutral | None | None | None | None | N |
| S/L | 0.1081 | likely_benign | 0.12 | benign | -0.186 | Destabilizing | 0.939 | D | 0.394 | neutral | None | None | None | None | N |
| S/M | 0.1821 | likely_benign | 0.1813 | benign | 0.024 | Stabilizing | 0.999 | D | 0.327 | neutral | None | None | None | None | N |
| S/N | 0.1153 | likely_benign | 0.1192 | benign | -0.109 | Destabilizing | 0.92 | D | 0.369 | neutral | N | 0.455345824 | None | None | N |
| S/P | 0.3583 | ambiguous | 0.3558 | ambiguous | -0.183 | Destabilizing | 0.997 | D | 0.309 | neutral | None | None | None | None | N |
| S/Q | 0.4664 | ambiguous | 0.442 | ambiguous | -0.37 | Destabilizing | 0.991 | D | 0.341 | neutral | None | None | None | None | N |
| S/R | 0.6339 | likely_pathogenic | 0.6239 | pathogenic | -0.148 | Destabilizing | 0.988 | D | 0.331 | neutral | N | 0.471605396 | None | None | N |
| S/T | 0.0787 | likely_benign | 0.0816 | benign | -0.233 | Destabilizing | 0.134 | N | 0.268 | neutral | N | 0.450639269 | None | None | N |
| S/V | 0.1872 | likely_benign | 0.1906 | benign | -0.183 | Destabilizing | 0.939 | D | 0.383 | neutral | None | None | None | None | N |
| S/W | 0.4192 | ambiguous | 0.4177 | ambiguous | -0.967 | Destabilizing | 0.999 | D | 0.533 | neutral | None | None | None | None | N |
| S/Y | 0.2983 | likely_benign | 0.3023 | benign | -0.671 | Destabilizing | 0.997 | D | 0.387 | 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.