Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18853 | 56782;56783;56784 | chr2:178599236;178599235;178599234 | chr2:179463963;179463962;179463961 |
| N2AB | 17212 | 51859;51860;51861 | chr2:178599236;178599235;178599234 | chr2:179463963;179463962;179463961 |
| N2A | 16285 | 49078;49079;49080 | chr2:178599236;178599235;178599234 | chr2:179463963;179463962;179463961 |
| N2B | 9788 | 29587;29588;29589 | chr2:178599236;178599235;178599234 | chr2:179463963;179463962;179463961 |
| Novex-1 | 9913 | 29962;29963;29964 | chr2:178599236;178599235;178599234 | chr2:179463963;179463962;179463961 |
| Novex-2 | 9980 | 30163;30164;30165 | chr2:178599236;178599235;178599234 | chr2:179463963;179463962;179463961 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/R | rs1348351926  |
-0.72 | 1.0 | N | 0.661 | 0.437 | 0.331876078066 | gnomAD-2.1.1 | 5.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 5.32E-05 | None | 0 | 0 | 0 |
| H/R | rs1348351926 |
-0.72 | 1.0 | N | 0.661 | 0.437 | 0.331876078066 | gnomAD-4.0.0 | 1.7729E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.79449E-05 | 0 |
| H/Y | rs397517623 |
1.147 | 0.999 | N | 0.525 | 0.406 | 0.386882687439 | gnomAD-2.1.1 | 2.53E-05 | None | None | None | None | N | None | 0 | 1.63479E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 2.17865E-04 |
| H/Y | rs397517623 |
1.147 | 0.999 | N | 0.525 | 0.406 | 0.386882687439 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 1.31113E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.78011E-04 |
| H/Y | rs397517623 |
1.147 | 0.999 | N | 0.525 | 0.406 | 0.386882687439 | gnomAD-4.0.0 | 2.23496E-05 | None | None | None | None | N | None | 0 | 2.30656E-04 | None | 0 | 0 | None | 0 | 0 | 5.1147E-06 | 0 | 9.24157E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.6239 | likely_pathogenic | 0.6255 | pathogenic | -0.329 | Destabilizing | 0.999 | D | 0.597 | neutral | None | None | None | None | N |
| H/C | 0.2615 | likely_benign | 0.2675 | benign | 0.423 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| H/D | 0.5746 | likely_pathogenic | 0.614 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.664 | neutral | N | 0.476026366 | None | None | N |
| H/E | 0.6155 | likely_pathogenic | 0.6328 | pathogenic | -0.419 | Destabilizing | 0.999 | D | 0.495 | neutral | None | None | None | None | N |
| H/F | 0.514 | ambiguous | 0.5002 | ambiguous | 0.876 | Stabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| H/G | 0.6422 | likely_pathogenic | 0.6537 | pathogenic | -0.691 | Destabilizing | 0.999 | D | 0.62 | neutral | None | None | None | None | N |
| H/I | 0.6263 | likely_pathogenic | 0.6186 | pathogenic | 0.656 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| H/K | 0.4351 | ambiguous | 0.4568 | ambiguous | -0.194 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| H/L | 0.3417 | ambiguous | 0.3404 | ambiguous | 0.656 | Stabilizing | 1.0 | D | 0.738 | prob.delet. | N | 0.516478647 | None | None | N |
| H/M | 0.6621 | likely_pathogenic | 0.6482 | pathogenic | 0.423 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| H/N | 0.2187 | likely_benign | 0.2108 | benign | -0.364 | Destabilizing | 0.999 | D | 0.493 | neutral | N | 0.466473901 | None | None | N |
| H/P | 0.7948 | likely_pathogenic | 0.8476 | pathogenic | 0.35 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.4946376 | None | None | N |
| H/Q | 0.3564 | ambiguous | 0.3694 | ambiguous | -0.145 | Destabilizing | 1.0 | D | 0.659 | neutral | N | 0.483192792 | None | None | N |
| H/R | 0.209 | likely_benign | 0.2281 | benign | -0.828 | Destabilizing | 1.0 | D | 0.661 | neutral | N | 0.469684777 | None | None | N |
| H/S | 0.4823 | ambiguous | 0.4801 | ambiguous | -0.253 | Destabilizing | 1.0 | D | 0.636 | neutral | None | None | None | None | N |
| H/T | 0.5542 | ambiguous | 0.562 | ambiguous | -0.054 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| H/V | 0.5276 | ambiguous | 0.5075 | ambiguous | 0.35 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| H/W | 0.5748 | likely_pathogenic | 0.5815 | pathogenic | 1.098 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| H/Y | 0.2121 | likely_benign | 0.2035 | benign | 1.182 | Stabilizing | 0.999 | D | 0.525 | neutral | N | 0.483534784 | 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.