Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8181 | 24766;24767;24768 | chr2:178718565;178718564;178718563 | chr2:179583292;179583291;179583290 |
| N2AB | 7864 | 23815;23816;23817 | chr2:178718565;178718564;178718563 | chr2:179583292;179583291;179583290 |
| N2A | 6937 | 21034;21035;21036 | chr2:178718565;178718564;178718563 | chr2:179583292;179583291;179583290 |
| 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 | rs753248001  |
-0.461 | 0.09 | D | 0.231 | 0.24 | 0.227260227426 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| S/G | rs753248001 |
-0.461 | 0.09 | D | 0.231 | 0.24 | 0.227260227426 | gnomAD-4.0.0 | 5.47604E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52042E-05 | None | 0 | 0 | 1.79961E-06 | 4.64102E-05 | 1.65761E-05 |
| S/I | rs2077848883 |
None | 0.627 | D | 0.395 | 0.262 | 0.550759897685 | gnomAD-4.0.0 | 6.84507E-07 | None | None | None | None | N | None | 2.99043E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs753248001 |
0.067 | 0.003 | N | 0.182 | 0.178 | 0.201204373187 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 5.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs753248001 |
0.067 | 0.003 | N | 0.182 | 0.178 | 0.201204373187 | gnomAD-4.0.0 | 1.36901E-06 | None | None | None | None | N | None | 0 | 4.47467E-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 | 0.1002 | likely_benign | 0.094 | benign | -0.37 | Destabilizing | 0.116 | N | 0.334 | neutral | None | None | None | None | N |
| S/C | 0.1533 | likely_benign | 0.1634 | benign | -0.362 | Destabilizing | 0.001 | N | 0.185 | neutral | N | 0.512661809 | None | None | N |
| S/D | 0.4793 | ambiguous | 0.5814 | pathogenic | 0.672 | Stabilizing | 0.002 | N | 0.184 | neutral | None | None | None | None | N |
| S/E | 0.572 | likely_pathogenic | 0.6271 | pathogenic | 0.63 | Stabilizing | 0.241 | N | 0.199 | neutral | None | None | None | None | N |
| S/F | 0.2773 | likely_benign | 0.2882 | benign | -0.851 | Destabilizing | 0.932 | D | 0.365 | neutral | None | None | None | None | N |
| S/G | 0.1545 | likely_benign | 0.1858 | benign | -0.529 | Destabilizing | 0.09 | N | 0.231 | neutral | D | 0.523004157 | None | None | N |
| S/H | 0.3307 | likely_benign | 0.3866 | ambiguous | -0.845 | Destabilizing | 0.69 | D | 0.353 | neutral | None | None | None | None | N |
| S/I | 0.1935 | likely_benign | 0.2333 | benign | -0.076 | Destabilizing | 0.627 | D | 0.395 | neutral | D | 0.533174187 | None | None | N |
| S/K | 0.6534 | likely_pathogenic | 0.7385 | pathogenic | -0.207 | Destabilizing | 0.241 | N | 0.2 | neutral | None | None | None | None | N |
| S/L | 0.1305 | likely_benign | 0.1315 | benign | -0.076 | Destabilizing | 0.241 | N | 0.337 | neutral | None | None | None | None | N |
| S/M | 0.2497 | likely_benign | 0.2677 | benign | -0.151 | Destabilizing | 0.981 | D | 0.35 | neutral | None | None | None | None | N |
| S/N | 0.15 | likely_benign | 0.2367 | benign | -0.126 | Destabilizing | 0.001 | N | 0.109 | neutral | N | 0.488263677 | None | None | N |
| S/P | 0.4012 | ambiguous | 0.4429 | ambiguous | -0.143 | Destabilizing | 0.818 | D | 0.385 | neutral | None | None | None | None | N |
| S/Q | 0.4828 | ambiguous | 0.5375 | ambiguous | -0.221 | Destabilizing | 0.69 | D | 0.325 | neutral | None | None | None | None | N |
| S/R | 0.5153 | ambiguous | 0.6106 | pathogenic | -0.109 | Destabilizing | 0.003 | N | 0.182 | neutral | N | 0.488010188 | None | None | N |
| S/T | 0.0895 | likely_benign | 0.0966 | benign | -0.227 | Destabilizing | 0.193 | N | 0.24 | neutral | N | 0.478646269 | None | None | N |
| S/V | 0.2069 | likely_benign | 0.2197 | benign | -0.143 | Destabilizing | 0.388 | N | 0.371 | neutral | None | None | None | None | N |
| S/W | 0.4267 | ambiguous | 0.4347 | ambiguous | -0.886 | Destabilizing | 0.981 | D | 0.507 | neutral | None | None | None | None | N |
| S/Y | 0.224 | likely_benign | 0.2425 | benign | -0.561 | Destabilizing | 0.932 | D | 0.363 | 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.