Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 28536 | 85831;85832;85833 | chr2:178560526;178560525;178560524 | chr2:179425253;179425252;179425251 |
N2AB | 26895 | 80908;80909;80910 | chr2:178560526;178560525;178560524 | chr2:179425253;179425252;179425251 |
N2A | 25968 | 78127;78128;78129 | chr2:178560526;178560525;178560524 | chr2:179425253;179425252;179425251 |
N2B | 19471 | 58636;58637;58638 | chr2:178560526;178560525;178560524 | chr2:179425253;179425252;179425251 |
Novex-1 | 19596 | 59011;59012;59013 | chr2:178560526;178560525;178560524 | chr2:179425253;179425252;179425251 |
Novex-2 | 19663 | 59212;59213;59214 | chr2:178560526;178560525;178560524 | chr2:179425253;179425252;179425251 |
Novex-3 | None | None | chr2:None | chr2:None |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P/T | rs1703229481 | None | 0.124 | N | 0.481 | 0.141 | 0.134241683229 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
P/T | rs1703229481 | None | 0.124 | N | 0.481 | 0.141 | 0.134241683229 | gnomAD-4.0.0 | 3.84685E-06 | None | None | None | None | I | None | 3.38662E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39412E-06 | 0 | 0 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P/A | 0.0713 | likely_benign | 0.0717 | benign | -1.506 | Destabilizing | None | N | 0.311 | neutral | N | 0.505645577 | None | None | I |
P/C | 0.3661 | ambiguous | 0.3896 | ambiguous | -0.899 | Destabilizing | 0.909 | D | 0.739 | prob.delet. | None | None | None | None | I |
P/D | 0.6265 | likely_pathogenic | 0.5656 | pathogenic | -1.502 | Destabilizing | 0.396 | N | 0.515 | neutral | None | None | None | None | I |
P/E | 0.4366 | ambiguous | 0.4206 | ambiguous | -1.531 | Destabilizing | 0.157 | N | 0.482 | neutral | None | None | None | None | I |
P/F | 0.4319 | ambiguous | 0.4334 | ambiguous | -1.197 | Destabilizing | 0.567 | D | 0.738 | prob.delet. | None | None | None | None | I |
P/G | 0.2807 | likely_benign | 0.2697 | benign | -1.789 | Destabilizing | 0.157 | N | 0.57 | neutral | None | None | None | None | I |
P/H | 0.2558 | likely_benign | 0.2558 | benign | -1.313 | Destabilizing | 0.005 | N | 0.538 | neutral | D | 0.528137085 | None | None | I |
P/I | 0.35 | ambiguous | 0.3471 | ambiguous | -0.835 | Destabilizing | 0.567 | D | 0.695 | prob.neutral | None | None | None | None | I |
P/K | 0.4458 | ambiguous | 0.4339 | ambiguous | -1.332 | Destabilizing | 0.157 | N | 0.496 | neutral | None | None | None | None | I |
P/L | 0.2179 | likely_benign | 0.2065 | benign | -0.835 | Destabilizing | 0.124 | N | 0.64 | neutral | D | 0.52560219 | None | None | I |
P/M | 0.3543 | ambiguous | 0.3622 | ambiguous | -0.596 | Destabilizing | 0.909 | D | 0.675 | neutral | None | None | None | None | I |
P/N | 0.4002 | ambiguous | 0.3994 | ambiguous | -1.035 | Destabilizing | 0.396 | N | 0.605 | neutral | None | None | None | None | I |
P/Q | 0.2793 | likely_benign | 0.267 | benign | -1.268 | Destabilizing | 0.567 | D | 0.562 | neutral | None | None | None | None | I |
P/R | 0.3493 | ambiguous | 0.318 | benign | -0.715 | Destabilizing | 0.497 | N | 0.633 | neutral | D | 0.527123127 | None | None | I |
P/S | 0.1135 | likely_benign | 0.1117 | benign | -1.475 | Destabilizing | 0.001 | N | 0.414 | neutral | N | 0.508676477 | None | None | I |
P/T | 0.134 | likely_benign | 0.1347 | benign | -1.411 | Destabilizing | 0.124 | N | 0.481 | neutral | N | 0.509436946 | None | None | I |
P/V | 0.2266 | likely_benign | 0.2326 | benign | -1.025 | Destabilizing | 0.157 | N | 0.581 | neutral | None | None | None | None | I |
P/W | 0.6017 | likely_pathogenic | 0.5699 | pathogenic | -1.349 | Destabilizing | 0.968 | D | 0.761 | deleterious | None | None | None | None | I |
P/Y | 0.3696 | ambiguous | 0.3776 | ambiguous | -1.106 | Destabilizing | 0.396 | N | 0.727 | prob.delet. | 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.