Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15804 | 47635;47636;47637 | chr2:178617941;178617940;178617939 | chr2:179482668;179482667;179482666 |
| N2AB | 14163 | 42712;42713;42714 | chr2:178617941;178617940;178617939 | chr2:179482668;179482667;179482666 |
| N2A | 13236 | 39931;39932;39933 | chr2:178617941;178617940;178617939 | chr2:179482668;179482667;179482666 |
| N2B | 6739 | 20440;20441;20442 | chr2:178617941;178617940;178617939 | chr2:179482668;179482667;179482666 |
| Novex-1 | 6864 | 20815;20816;20817 | chr2:178617941;178617940;178617939 | chr2:179482668;179482667;179482666 |
| Novex-2 | 6931 | 21016;21017;21018 | chr2:178617941;178617940;178617939 | chr2:179482668;179482667;179482666 |
| 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/S | rs759143403  |
-0.167 | 0.425 | N | 0.301 | 0.171 | 0.181679512989 | gnomAD-2.1.1 | 9.67E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 7.84365E-04 | None | 0 | 0 | 0 |
| R/S | rs759143403 |
-0.167 | 0.425 | N | 0.301 | 0.171 | 0.181679512989 | gnomAD-4.0.0 | 4.24444E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.95797E-04 | 3.31664E-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 | 0.4649 | ambiguous | 0.5133 | ambiguous | 0.022 | Stabilizing | 0.3 | N | 0.351 | neutral | None | None | None | None | I |
| R/C | 0.2728 | likely_benign | 0.2819 | benign | -0.197 | Destabilizing | 0.995 | D | 0.195 | neutral | None | None | None | None | I |
| R/D | 0.7138 | likely_pathogenic | 0.7841 | pathogenic | -0.107 | Destabilizing | 0.704 | D | 0.288 | neutral | None | None | None | None | I |
| R/E | 0.4564 | ambiguous | 0.5234 | ambiguous | -0.038 | Destabilizing | 0.329 | N | 0.259 | neutral | None | None | None | None | I |
| R/F | 0.6258 | likely_pathogenic | 0.6733 | pathogenic | -0.207 | Destabilizing | 0.893 | D | 0.266 | neutral | None | None | None | None | I |
| R/G | 0.3598 | ambiguous | 0.4043 | ambiguous | -0.171 | Destabilizing | 0.425 | N | 0.232 | neutral | N | 0.434871951 | None | None | I |
| R/H | 0.1245 | likely_benign | 0.1371 | benign | -0.693 | Destabilizing | 0.981 | D | 0.247 | neutral | None | None | None | None | I |
| R/I | 0.3331 | likely_benign | 0.3849 | ambiguous | 0.493 | Stabilizing | 0.329 | N | 0.223 | neutral | None | None | None | None | I |
| R/K | 0.1172 | likely_benign | 0.1142 | benign | -0.086 | Destabilizing | 0.001 | N | 0.097 | neutral | N | 0.419574923 | None | None | I |
| R/L | 0.2951 | likely_benign | 0.3389 | benign | 0.493 | Stabilizing | 0.069 | N | 0.341 | neutral | None | None | None | None | I |
| R/M | 0.3993 | ambiguous | 0.4234 | ambiguous | 0.004 | Stabilizing | 0.065 | N | 0.293 | neutral | N | 0.484676963 | None | None | I |
| R/N | 0.5702 | likely_pathogenic | 0.6212 | pathogenic | 0.059 | Stabilizing | 0.704 | D | 0.241 | neutral | None | None | None | None | I |
| R/P | 0.8547 | likely_pathogenic | 0.8828 | pathogenic | 0.356 | Stabilizing | 0.828 | D | 0.292 | neutral | None | None | None | None | I |
| R/Q | 0.1236 | likely_benign | 0.1363 | benign | 0.004 | Stabilizing | 0.704 | D | 0.255 | neutral | None | None | None | None | I |
| R/S | 0.5093 | ambiguous | 0.5716 | pathogenic | -0.246 | Destabilizing | 0.425 | N | 0.301 | neutral | N | 0.461184585 | None | None | I |
| R/T | 0.2948 | likely_benign | 0.3342 | benign | -0.042 | Destabilizing | 0.425 | N | 0.281 | neutral | N | 0.458310046 | None | None | I |
| R/V | 0.4033 | ambiguous | 0.4556 | ambiguous | 0.356 | Stabilizing | 0.013 | N | 0.205 | neutral | None | None | None | None | I |
| R/W | 0.2847 | likely_benign | 0.3196 | benign | -0.3 | Destabilizing | 0.993 | D | 0.199 | neutral | N | 0.520976957 | None | None | I |
| R/Y | 0.4615 | ambiguous | 0.5076 | ambiguous | 0.116 | Stabilizing | 0.944 | D | 0.271 | 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.