Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2859 | 8800;8801;8802 | chr2:178770126;178770125;178770124 | chr2:179634853;179634852;179634851 |
| N2AB | 2859 | 8800;8801;8802 | chr2:178770126;178770125;178770124 | chr2:179634853;179634852;179634851 |
| N2A | 2859 | 8800;8801;8802 | chr2:178770126;178770125;178770124 | chr2:179634853;179634852;179634851 |
| N2B | 2813 | 8662;8663;8664 | chr2:178770126;178770125;178770124 | chr2:179634853;179634852;179634851 |
| Novex-1 | 2813 | 8662;8663;8664 | chr2:178770126;178770125;178770124 | chr2:179634853;179634852;179634851 |
| Novex-2 | 2813 | 8662;8663;8664 | chr2:178770126;178770125;178770124 | chr2:179634853;179634852;179634851 |
| Novex-3 | 2859 | 8800;8801;8802 | chr2:178770126;178770125;178770124 | chr2:179634853;179634852;179634851 |
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/A | None | None | None | N | 0.074 | 0.073 | 0.0297737177859 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-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 | 0.0551 | likely_benign | 0.0562 | benign | -0.225 | Destabilizing | None | N | 0.074 | neutral | N | 0.455962935 | None | None | N |
| S/C | 0.1195 | likely_benign | 0.1344 | benign | -0.228 | Destabilizing | 0.676 | D | 0.305 | neutral | None | None | None | None | N |
| S/D | 0.1814 | likely_benign | 0.2199 | benign | 0.019 | Stabilizing | None | N | 0.167 | neutral | None | None | None | None | N |
| S/E | 0.2375 | likely_benign | 0.3013 | benign | -0.089 | Destabilizing | 0.001 | N | 0.19 | neutral | None | None | None | None | N |
| S/F | 0.1505 | likely_benign | 0.1724 | benign | -0.937 | Destabilizing | 0.12 | N | 0.342 | neutral | None | None | None | None | N |
| S/G | 0.0746 | likely_benign | 0.0786 | benign | -0.294 | Destabilizing | None | N | 0.091 | neutral | None | None | None | None | N |
| S/H | 0.224 | likely_benign | 0.2865 | benign | -0.706 | Destabilizing | 0.628 | D | 0.317 | neutral | None | None | None | None | N |
| S/I | 0.1149 | likely_benign | 0.1363 | benign | -0.179 | Destabilizing | 0.038 | N | 0.387 | neutral | None | None | None | None | N |
| S/K | 0.3352 | likely_benign | 0.4444 | ambiguous | -0.371 | Destabilizing | 0.072 | N | 0.117 | neutral | None | None | None | None | N |
| S/L | 0.0749 | likely_benign | 0.0835 | benign | -0.179 | Destabilizing | None | N | 0.219 | neutral | D | 0.526701502 | None | None | N |
| S/M | 0.1328 | likely_benign | 0.1627 | benign | -0.004 | Destabilizing | 0.214 | N | 0.319 | neutral | None | None | None | None | N |
| S/N | 0.0949 | likely_benign | 0.1107 | benign | -0.1 | Destabilizing | 0.038 | N | 0.163 | neutral | None | None | None | None | N |
| S/P | 0.2236 | likely_benign | 0.2651 | benign | -0.169 | Destabilizing | 0.055 | N | 0.359 | neutral | D | 0.526701502 | None | None | N |
| S/Q | 0.2674 | likely_benign | 0.3456 | ambiguous | -0.355 | Destabilizing | 0.072 | N | 0.241 | neutral | None | None | None | None | N |
| S/R | 0.3185 | likely_benign | 0.397 | ambiguous | -0.113 | Destabilizing | 0.072 | N | 0.356 | neutral | None | None | None | None | N |
| S/T | 0.0674 | likely_benign | 0.0736 | benign | -0.201 | Destabilizing | None | N | 0.142 | neutral | N | 0.497390695 | None | None | N |
| S/V | 0.1027 | likely_benign | 0.1235 | benign | -0.169 | Destabilizing | 0.016 | N | 0.261 | neutral | None | None | None | None | N |
| S/W | 0.2843 | likely_benign | 0.3218 | benign | -0.996 | Destabilizing | 0.864 | D | 0.344 | neutral | None | None | None | None | N |
| S/Y | 0.1684 | likely_benign | 0.1872 | benign | -0.687 | Destabilizing | 0.356 | N | 0.328 | 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.