Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3217 | 9874;9875;9876 | chr2:178766435;178766434;178766433 | chr2:179631162;179631161;179631160 |
| N2AB | 3217 | 9874;9875;9876 | chr2:178766435;178766434;178766433 | chr2:179631162;179631161;179631160 |
| N2A | 3217 | 9874;9875;9876 | chr2:178766435;178766434;178766433 | chr2:179631162;179631161;179631160 |
| N2B | 3171 | 9736;9737;9738 | chr2:178766435;178766434;178766433 | chr2:179631162;179631161;179631160 |
| Novex-1 | 3171 | 9736;9737;9738 | chr2:178766435;178766434;178766433 | chr2:179631162;179631161;179631160 |
| Novex-2 | 3171 | 9736;9737;9738 | chr2:178766435;178766434;178766433 | chr2:179631162;179631161;179631160 |
| Novex-3 | 3217 | 9874;9875;9876 | chr2:178766435;178766434;178766433 | chr2:179631162;179631161;179631160 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | rs1014216424  |
-0.824 | 0.996 | D | 0.617 | 0.589 | 0.558460104044 | gnomAD-2.1.1 | 7.08E-06 | None | None | None | None | N | None | 8.01E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/A | rs1014216424 |
-0.824 | 0.996 | D | 0.617 | 0.589 | 0.558460104044 | gnomAD-3.1.2 | 3.28E-05 | None | None | None | None | N | None | 1.20616E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/A | rs1014216424 |
-0.824 | 0.996 | D | 0.617 | 0.589 | 0.558460104044 | gnomAD-4.0.0 | 4.95649E-06 | None | None | None | None | N | None | 1.06761E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs759502450 |
-0.019 | 0.767 | D | 0.319 | 0.366 | 0.397540356873 | gnomAD-2.1.1 | 6.77E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 5.55301E-04 | None | 0 | 0 | 0 |
| E/K | rs759502450 |
-0.019 | 0.767 | D | 0.319 | 0.366 | 0.397540356873 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.13907E-04 | 0 |
| E/K | rs759502450 |
-0.019 | 0.767 | D | 0.319 | 0.366 | 0.397540356873 | gnomAD-4.0.0 | 3.09788E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.3793E-04 | 1.60046E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.4428 | ambiguous | 0.3809 | ambiguous | -0.978 | Destabilizing | 0.996 | D | 0.617 | neutral | D | 0.642694845 | None | None | N |
| E/C | 0.9725 | likely_pathogenic | 0.9636 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| E/D | 0.3699 | ambiguous | 0.3449 | ambiguous | -0.861 | Destabilizing | 0.998 | D | 0.513 | neutral | N | 0.508652956 | None | None | N |
| E/F | 0.9364 | likely_pathogenic | 0.9313 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| E/G | 0.6456 | likely_pathogenic | 0.6309 | pathogenic | -1.259 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | D | 0.645041418 | None | None | N |
| E/H | 0.8203 | likely_pathogenic | 0.7966 | pathogenic | -1.153 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| E/I | 0.5604 | ambiguous | 0.516 | ambiguous | -0.23 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| E/K | 0.3613 | ambiguous | 0.3489 | ambiguous | -0.207 | Destabilizing | 0.767 | D | 0.319 | neutral | D | 0.5715696 | None | None | N |
| E/L | 0.7243 | likely_pathogenic | 0.6951 | pathogenic | -0.23 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| E/M | 0.7212 | likely_pathogenic | 0.6868 | pathogenic | 0.321 | Stabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| E/N | 0.5564 | ambiguous | 0.5307 | ambiguous | -0.568 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| E/P | 0.9294 | likely_pathogenic | 0.9095 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| E/Q | 0.2952 | likely_benign | 0.278 | benign | -0.516 | Destabilizing | 0.996 | D | 0.594 | neutral | D | 0.54589369 | None | None | N |
| E/R | 0.5581 | ambiguous | 0.5374 | ambiguous | -0.168 | Destabilizing | 0.998 | D | 0.656 | neutral | None | None | None | None | N |
| E/S | 0.5214 | ambiguous | 0.4807 | ambiguous | -0.843 | Destabilizing | 0.997 | D | 0.581 | neutral | None | None | None | None | N |
| E/T | 0.4606 | ambiguous | 0.3897 | ambiguous | -0.597 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| E/V | 0.4101 | ambiguous | 0.3548 | ambiguous | -0.46 | Destabilizing | 0.999 | D | 0.759 | deleterious | D | 0.536959657 | None | None | N |
| E/W | 0.9839 | likely_pathogenic | 0.9827 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| E/Y | 0.9068 | likely_pathogenic | 0.9044 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.745 | deleterious | 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.