Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33215 | 99868;99869;99870 | chr2:178537564;178537563;178537562 | chr2:179402291;179402290;179402289 |
| N2AB | 31574 | 94945;94946;94947 | chr2:178537564;178537563;178537562 | chr2:179402291;179402290;179402289 |
| N2A | 30647 | 92164;92165;92166 | chr2:178537564;178537563;178537562 | chr2:179402291;179402290;179402289 |
| N2B | 24150 | 72673;72674;72675 | chr2:178537564;178537563;178537562 | chr2:179402291;179402290;179402289 |
| Novex-1 | 24275 | 73048;73049;73050 | chr2:178537564;178537563;178537562 | chr2:179402291;179402290;179402289 |
| Novex-2 | 24342 | 73249;73250;73251 | chr2:178537564;178537563;178537562 | chr2:179402291;179402290;179402289 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/P | rs373182320  |
0.101 | 1.0 | N | 0.719 | 0.465 | 0.403040389579 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66003E-04 |
| R/P | rs373182320 |
0.101 | 1.0 | N | 0.719 | 0.465 | 0.403040389579 | gnomAD-4.0.0 | 2.73691E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.7343E-04 | 2.69842E-06 | 0 | 0 |
| R/Q | rs373182320 |
0.089 | 1.0 | N | 0.704 | 0.351 | None | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | N | None | 0 | 8.5E-05 | None | 0 | 0 | None | 0 | None | 0 | 2.34E-05 | 0 |
| R/Q | rs373182320 |
0.089 | 1.0 | N | 0.704 | 0.351 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/Q | rs373182320 |
0.089 | 1.0 | N | 0.704 | 0.351 | None | gnomAD-4.0.0 | 1.36339E-05 | None | None | None | None | N | None | 0 | 5.00183E-05 | None | 0 | 2.22846E-05 | None | 0 | 1.6442E-04 | 1.44095E-05 | 0 | 0 |
| R/W | rs377598016 |
-0.138 | 1.0 | N | 0.745 | 0.455 | None | gnomAD-2.1.1 | 5.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.61506E-04 | None | 0 | 4.43E-05 | 0 |
| R/W | rs377598016 |
-0.138 | 1.0 | N | 0.745 | 0.455 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| R/W | rs377598016 |
-0.138 | 1.0 | N | 0.745 | 0.455 | None | gnomAD-4.0.0 | 5.76281E-05 | None | None | None | None | N | None | 1.33287E-05 | 1.66644E-05 | None | 0 | 2.22926E-05 | None | 0 | 0 | 6.27235E-05 | 1.64694E-04 | 1.60061E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9649 | likely_pathogenic | 0.9354 | pathogenic | -0.261 | Destabilizing | 0.999 | D | 0.588 | neutral | None | None | None | None | N |
| R/C | 0.6189 | likely_pathogenic | 0.5043 | ambiguous | -0.085 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| R/D | 0.9864 | likely_pathogenic | 0.9749 | pathogenic | 0.019 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| R/E | 0.9237 | likely_pathogenic | 0.8706 | pathogenic | 0.167 | Stabilizing | 0.998 | D | 0.616 | neutral | None | None | None | None | N |
| R/F | 0.9532 | likely_pathogenic | 0.9247 | pathogenic | 0.06 | Stabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| R/G | 0.946 | likely_pathogenic | 0.9055 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.656 | neutral | N | 0.465744973 | None | None | N |
| R/H | 0.4077 | ambiguous | 0.2697 | benign | -1.225 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| R/I | 0.8273 | likely_pathogenic | 0.7537 | pathogenic | 0.649 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| R/K | 0.501 | ambiguous | 0.3822 | ambiguous | -0.273 | Destabilizing | 0.988 | D | 0.495 | neutral | None | None | None | None | N |
| R/L | 0.8057 | likely_pathogenic | 0.7021 | pathogenic | 0.649 | Stabilizing | 1.0 | D | 0.656 | neutral | N | 0.47437016 | None | None | N |
| R/M | 0.9055 | likely_pathogenic | 0.8303 | pathogenic | 0.115 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| R/N | 0.9643 | likely_pathogenic | 0.9407 | pathogenic | 0.099 | Stabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| R/P | 0.985 | likely_pathogenic | 0.9749 | pathogenic | 0.368 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.465744973 | None | None | N |
| R/Q | 0.4732 | ambiguous | 0.333 | benign | 0.107 | Stabilizing | 1.0 | D | 0.704 | prob.neutral | N | 0.489147612 | None | None | N |
| R/S | 0.9586 | likely_pathogenic | 0.925 | pathogenic | -0.387 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| R/T | 0.9199 | likely_pathogenic | 0.8328 | pathogenic | -0.05 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| R/V | 0.8759 | likely_pathogenic | 0.8185 | pathogenic | 0.368 | Stabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| R/W | 0.6789 | likely_pathogenic | 0.5295 | ambiguous | 0.244 | Stabilizing | 1.0 | D | 0.745 | deleterious | N | 0.465998463 | None | None | N |
| R/Y | 0.8815 | likely_pathogenic | 0.8126 | pathogenic | 0.547 | Stabilizing | 1.0 | D | 0.741 | deleterious | 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.