Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 14025 | 42298;42299;42300 | chr2:178634801;178634800;178634799 | chr2:179499528;179499527;179499526 |
N2AB | 12384 | 37375;37376;37377 | chr2:178634801;178634800;178634799 | chr2:179499528;179499527;179499526 |
N2A | 11457 | 34594;34595;34596 | chr2:178634801;178634800;178634799 | chr2:179499528;179499527;179499526 |
N2B | 4960 | 15103;15104;15105 | chr2:178634801;178634800;178634799 | chr2:179499528;179499527;179499526 |
Novex-1 | 5085 | 15478;15479;15480 | chr2:178634801;178634800;178634799 | chr2:179499528;179499527;179499526 |
Novex-2 | 5152 | 15679;15680;15681 | chr2:178634801;178634800;178634799 | chr2:179499528;179499527;179499526 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
K/E | rs762241231 | 0.492 | 0.012 | N | 0.444 | 0.125 | 0.148003135375 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
K/E | rs762241231 | 0.492 | 0.012 | N | 0.444 | 0.125 | 0.148003135375 | gnomAD-4.0.0 | 6.84613E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99787E-06 | 0 | 0 |
K/R | None | None | 0.058 | N | 0.463 | 0.135 | 0.193865811164 | gnomAD-4.0.0 | 1.59342E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43612E-05 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
K/A | 0.5585 | ambiguous | 0.7196 | pathogenic | -0.047 | Destabilizing | 0.075 | N | 0.382 | neutral | None | None | None | None | N |
K/C | 0.8526 | likely_pathogenic | 0.9067 | pathogenic | -0.153 | Destabilizing | 0.869 | D | 0.521 | neutral | None | None | None | None | N |
K/D | 0.5354 | ambiguous | 0.669 | pathogenic | 0.199 | Stabilizing | 0.039 | N | 0.389 | neutral | None | None | None | None | N |
K/E | 0.3943 | ambiguous | 0.5353 | ambiguous | 0.225 | Stabilizing | 0.012 | N | 0.444 | neutral | N | 0.435539031 | None | None | N |
K/F | 0.9466 | likely_pathogenic | 0.9679 | pathogenic | -0.135 | Destabilizing | 0.366 | N | 0.5 | neutral | None | None | None | None | N |
K/G | 0.531 | ambiguous | 0.6535 | pathogenic | -0.29 | Destabilizing | 0.039 | N | 0.413 | neutral | None | None | None | None | N |
K/H | 0.3209 | likely_benign | 0.4222 | ambiguous | -0.63 | Destabilizing | 0.001 | N | 0.293 | neutral | None | None | None | None | N |
K/I | 0.8726 | likely_pathogenic | 0.9182 | pathogenic | 0.524 | Stabilizing | 0.303 | N | 0.547 | neutral | N | 0.446609548 | None | None | N |
K/L | 0.72 | likely_pathogenic | 0.8099 | pathogenic | 0.524 | Stabilizing | 0.075 | N | 0.447 | neutral | None | None | None | None | N |
K/M | 0.5636 | ambiguous | 0.6882 | pathogenic | 0.342 | Stabilizing | 0.869 | D | 0.42 | neutral | None | None | None | None | N |
K/N | 0.3382 | likely_benign | 0.5354 | ambiguous | 0.229 | Stabilizing | None | N | 0.1 | neutral | N | 0.402769651 | None | None | N |
K/P | 0.9659 | likely_pathogenic | 0.9746 | pathogenic | 0.363 | Stabilizing | 0.366 | N | 0.513 | neutral | None | None | None | None | N |
K/Q | 0.2194 | likely_benign | 0.3033 | benign | 0.067 | Stabilizing | 0.058 | N | 0.522 | neutral | N | 0.438117485 | None | None | N |
K/R | 0.115 | likely_benign | 0.1309 | benign | -0.113 | Destabilizing | 0.058 | N | 0.463 | neutral | N | 0.442439529 | None | None | N |
K/S | 0.507 | ambiguous | 0.6867 | pathogenic | -0.315 | Destabilizing | 0.016 | N | 0.36 | neutral | None | None | None | None | N |
K/T | 0.4546 | ambiguous | 0.6082 | pathogenic | -0.124 | Destabilizing | 0.03 | N | 0.357 | neutral | N | 0.435778886 | None | None | N |
K/V | 0.8006 | likely_pathogenic | 0.8629 | pathogenic | 0.363 | Stabilizing | 0.366 | N | 0.477 | neutral | None | None | None | None | N |
K/W | 0.9447 | likely_pathogenic | 0.9543 | pathogenic | -0.109 | Destabilizing | 0.869 | D | 0.601 | neutral | None | None | None | None | N |
K/Y | 0.8106 | likely_pathogenic | 0.8701 | pathogenic | 0.229 | Stabilizing | 0.221 | N | 0.536 | 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.