Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2274 | 7045;7046;7047 | chr2:178774444;178774443;178774442 | chr2:179639171;179639170;179639169 |
| N2AB | 2274 | 7045;7046;7047 | chr2:178774444;178774443;178774442 | chr2:179639171;179639170;179639169 |
| N2A | 2274 | 7045;7046;7047 | chr2:178774444;178774443;178774442 | chr2:179639171;179639170;179639169 |
| N2B | 2228 | 6907;6908;6909 | chr2:178774444;178774443;178774442 | chr2:179639171;179639170;179639169 |
| Novex-1 | 2228 | 6907;6908;6909 | chr2:178774444;178774443;178774442 | chr2:179639171;179639170;179639169 |
| Novex-2 | 2228 | 6907;6908;6909 | chr2:178774444;178774443;178774442 | chr2:179639171;179639170;179639169 |
| Novex-3 | 2274 | 7045;7046;7047 | chr2:178774444;178774443;178774442 | chr2:179639171;179639170;179639169 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs145649088  |
0.117 | None | N | 0.082 | 0.16 | 0.0551355673512 | gnomAD-2.1.1 | 1.42E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.50981E-04 | None | 0 | None | 0 | 0 | 1.39237E-04 |
| Q/E | rs145649088 |
0.117 | None | N | 0.082 | 0.16 | 0.0551355673512 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 1.92308E-04 | None | 0 | 0 | 0 | 0 | 9.5511E-04 |
| Q/E | rs145649088 |
0.117 | None | N | 0.082 | 0.16 | 0.0551355673512 | gnomAD-4.0.0 | 1.54983E-05 | None | None | None | None | N | None | 0 | 1.66789E-05 | None | 0 | 4.45931E-05 | None | 0 | 0 | 2.54254E-06 | 0 | 3.04107E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1431 | likely_benign | 0.1451 | benign | -0.155 | Destabilizing | 0.055 | N | 0.269 | neutral | None | None | None | None | N |
| Q/C | 0.5917 | likely_pathogenic | 0.5868 | pathogenic | 0.137 | Stabilizing | 0.958 | D | 0.249 | neutral | None | None | None | None | N |
| Q/D | 0.2281 | likely_benign | 0.2291 | benign | -0.035 | Destabilizing | None | N | 0.111 | neutral | None | None | None | None | N |
| Q/E | 0.0561 | likely_benign | 0.0586 | benign | -0.062 | Destabilizing | None | N | 0.082 | neutral | N | 0.461301154 | None | None | N |
| Q/F | 0.6328 | likely_pathogenic | 0.6195 | pathogenic | -0.346 | Destabilizing | 0.859 | D | 0.295 | neutral | None | None | None | None | N |
| Q/G | 0.1906 | likely_benign | 0.1856 | benign | -0.342 | Destabilizing | 0.104 | N | 0.291 | neutral | None | None | None | None | N |
| Q/H | 0.194 | likely_benign | 0.1954 | benign | -0.193 | Destabilizing | 0.602 | D | 0.356 | neutral | N | 0.501294135 | None | None | N |
| Q/I | 0.2825 | likely_benign | 0.2901 | benign | 0.25 | Stabilizing | 0.667 | D | 0.345 | neutral | None | None | None | None | N |
| Q/K | 0.0732 | likely_benign | 0.0753 | benign | 0.019 | Stabilizing | 0.019 | N | 0.196 | neutral | N | 0.440029096 | None | None | N |
| Q/L | 0.1182 | likely_benign | 0.1186 | benign | 0.25 | Stabilizing | 0.175 | N | 0.353 | neutral | N | 0.513716677 | None | None | N |
| Q/M | 0.2989 | likely_benign | 0.299 | benign | 0.369 | Stabilizing | 0.859 | D | 0.363 | neutral | None | None | None | None | N |
| Q/N | 0.1893 | likely_benign | 0.1856 | benign | -0.261 | Destabilizing | 0.104 | N | 0.278 | neutral | None | None | None | None | N |
| Q/P | 0.2331 | likely_benign | 0.2141 | benign | 0.143 | Stabilizing | 0.301 | N | 0.369 | neutral | N | 0.491074517 | None | None | N |
| Q/R | 0.1038 | likely_benign | 0.1037 | benign | 0.197 | Stabilizing | 0.081 | N | 0.317 | neutral | N | 0.467313042 | None | None | N |
| Q/S | 0.1609 | likely_benign | 0.1549 | benign | -0.248 | Destabilizing | 0.055 | N | 0.243 | neutral | None | None | None | None | N |
| Q/T | 0.1285 | likely_benign | 0.1315 | benign | -0.126 | Destabilizing | 0.104 | N | 0.311 | neutral | None | None | None | None | N |
| Q/V | 0.1667 | likely_benign | 0.173 | benign | 0.143 | Stabilizing | 0.22 | N | 0.354 | neutral | None | None | None | None | N |
| Q/W | 0.5665 | likely_pathogenic | 0.5504 | ambiguous | -0.349 | Destabilizing | 0.958 | D | 0.261 | neutral | None | None | None | None | N |
| Q/Y | 0.4546 | ambiguous | 0.446 | ambiguous | -0.091 | Destabilizing | 0.859 | D | 0.357 | 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.