Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8218 | 24877;24878;24879 | chr2:178718454;178718453;178718452 | chr2:179583181;179583180;179583179 |
| N2AB | 7901 | 23926;23927;23928 | chr2:178718454;178718453;178718452 | chr2:179583181;179583180;179583179 |
| N2A | 6974 | 21145;21146;21147 | chr2:178718454;178718453;178718452 | chr2:179583181;179583180;179583179 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs72648980  |
-0.902 | None | N | 0.141 | 0.107 | None | gnomAD-2.1.1 | 8.46876E-04 | None | None | None | None | I | None | 8.51451E-03 | 5.37726E-04 | None | 0 | 0 | None | 0 | None | 0 | 8.61E-05 | 1.40528E-04 |
| S/G | rs72648980 |
-0.902 | None | N | 0.141 | 0.107 | None | gnomAD-3.1.2 | 2.46435E-03 | None | None | None | None | I | None | 8.1544E-03 | 1.89815E-03 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 1.43267E-03 |
| S/G | rs72648980 |
-0.902 | None | N | 0.141 | 0.107 | None | 1000 genomes | 1.59744E-03 | None | None | None | None | I | None | 4.5E-03 | 2.9E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| S/G | rs72648980 |
-0.902 | None | N | 0.141 | 0.107 | None | gnomAD-4.0.0 | 4.64121E-04 | None | None | None | None | I | None | 8.11589E-03 | 1.01643E-03 | None | 0 | 0 | None | 1.56201E-05 | 1.65017E-04 | 3.81439E-05 | 0 | 5.12197E-04 |
| S/N | rs1205977275 |
-0.584 | None | N | 0.163 | 0.064 | 0.134241683229 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/N | rs1205977275 |
-0.584 | None | N | 0.163 | 0.064 | 0.134241683229 | gnomAD-4.0.0 | 3.18274E-06 | None | None | None | None | I | None | 0 | 4.57352E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.1135 | likely_benign | 0.1143 | benign | -0.707 | Destabilizing | None | N | 0.157 | neutral | None | None | None | None | I |
| S/C | 0.1482 | likely_benign | 0.1823 | benign | -0.765 | Destabilizing | 0.828 | D | 0.45 | neutral | N | 0.508738243 | None | None | I |
| S/D | 0.3014 | likely_benign | 0.3093 | benign | -1.03 | Destabilizing | 0.038 | N | 0.325 | neutral | None | None | None | None | I |
| S/E | 0.4185 | ambiguous | 0.4335 | ambiguous | -1.015 | Destabilizing | 0.072 | N | 0.322 | neutral | None | None | None | None | I |
| S/F | 0.2502 | likely_benign | 0.2738 | benign | -1.049 | Destabilizing | 0.214 | N | 0.487 | neutral | None | None | None | None | I |
| S/G | 0.0902 | likely_benign | 0.0922 | benign | -0.936 | Destabilizing | None | N | 0.141 | neutral | N | 0.495522663 | None | None | I |
| S/H | 0.1936 | likely_benign | 0.194 | benign | -1.504 | Destabilizing | 0.214 | N | 0.469 | neutral | None | None | None | None | I |
| S/I | 0.1414 | likely_benign | 0.161 | benign | -0.201 | Destabilizing | 0.029 | N | 0.485 | neutral | N | 0.520303678 | None | None | I |
| S/K | 0.3725 | ambiguous | 0.3825 | ambiguous | -0.706 | Destabilizing | 0.038 | N | 0.324 | neutral | None | None | None | None | I |
| S/L | 0.1423 | likely_benign | 0.1522 | benign | -0.201 | Destabilizing | None | N | 0.382 | neutral | None | None | None | None | I |
| S/M | 0.2233 | likely_benign | 0.2283 | benign | 0.118 | Stabilizing | 0.214 | N | 0.471 | neutral | None | None | None | None | I |
| S/N | 0.0875 | likely_benign | 0.0849 | benign | -0.866 | Destabilizing | None | N | 0.163 | neutral | N | 0.429142956 | None | None | I |
| S/P | 0.8288 | likely_pathogenic | 0.8484 | pathogenic | -0.338 | Destabilizing | 0.356 | N | 0.5 | neutral | None | None | None | None | I |
| S/Q | 0.3093 | likely_benign | 0.3007 | benign | -1.089 | Destabilizing | 0.214 | N | 0.425 | neutral | None | None | None | None | I |
| S/R | 0.259 | likely_benign | 0.2697 | benign | -0.597 | Destabilizing | 0.055 | N | 0.472 | neutral | N | 0.476915473 | None | None | I |
| S/T | 0.0906 | likely_benign | 0.0895 | benign | -0.778 | Destabilizing | None | N | 0.134 | neutral | N | 0.470317574 | None | None | I |
| S/V | 0.186 | likely_benign | 0.197 | benign | -0.338 | Destabilizing | 0.038 | N | 0.435 | neutral | None | None | None | None | I |
| S/W | 0.3951 | ambiguous | 0.4306 | ambiguous | -1.066 | Destabilizing | 0.864 | D | 0.544 | neutral | None | None | None | None | I |
| S/Y | 0.195 | likely_benign | 0.2165 | benign | -0.738 | Destabilizing | 0.628 | D | 0.499 | neutral | None | None | None | None | I |
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.