Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 2241 | 6946;6947;6948 | chr2:178774990;178774989;178774988 | chr2:179639717;179639716;179639715 |
N2AB | 2241 | 6946;6947;6948 | chr2:178774990;178774989;178774988 | chr2:179639717;179639716;179639715 |
N2A | 2241 | 6946;6947;6948 | chr2:178774990;178774989;178774988 | chr2:179639717;179639716;179639715 |
N2B | 2195 | 6808;6809;6810 | chr2:178774990;178774989;178774988 | chr2:179639717;179639716;179639715 |
Novex-1 | 2195 | 6808;6809;6810 | chr2:178774990;178774989;178774988 | chr2:179639717;179639716;179639715 |
Novex-2 | 2195 | 6808;6809;6810 | chr2:178774990;178774989;178774988 | chr2:179639717;179639716;179639715 |
Novex-3 | 2241 | 6946;6947;6948 | chr2:178774990;178774989;178774988 | chr2:179639717;179639716;179639715 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A/D | None | None | 0.005 | N | 0.284 | 0.292 | 0.492749560936 | gnomAD-4.0.0 | 1.59088E-06 | None | None | None | None | N | None | 0 | 2.28697E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A/C | 0.4822 | ambiguous | 0.4344 | ambiguous | -0.98 | Destabilizing | 0.998 | D | 0.469 | neutral | None | None | None | None | N |
A/D | 0.2946 | likely_benign | 0.293 | benign | -1.065 | Destabilizing | 0.005 | N | 0.284 | neutral | N | 0.505214838 | None | None | N |
A/E | 0.1703 | likely_benign | 0.1763 | benign | -1.135 | Destabilizing | 0.007 | N | 0.204 | neutral | None | None | None | None | N |
A/F | 0.3556 | ambiguous | 0.3439 | ambiguous | -1.084 | Destabilizing | 0.991 | D | 0.594 | neutral | None | None | None | None | N |
A/G | 0.1266 | likely_benign | 0.1265 | benign | -1.078 | Destabilizing | 0.625 | D | 0.497 | neutral | N | 0.504746739 | None | None | N |
A/H | 0.4839 | ambiguous | 0.4671 | ambiguous | -1.171 | Destabilizing | 0.974 | D | 0.581 | neutral | None | None | None | None | N |
A/I | 0.235 | likely_benign | 0.2184 | benign | -0.472 | Destabilizing | 0.974 | D | 0.53 | neutral | None | None | None | None | N |
A/K | 0.2772 | likely_benign | 0.2774 | benign | -1.222 | Destabilizing | 0.728 | D | 0.483 | neutral | None | None | None | None | N |
A/L | 0.1793 | likely_benign | 0.1769 | benign | -0.472 | Destabilizing | 0.842 | D | 0.479 | neutral | None | None | None | None | N |
A/M | 0.1911 | likely_benign | 0.1753 | benign | -0.384 | Destabilizing | 0.998 | D | 0.509 | neutral | None | None | None | None | N |
A/N | 0.2455 | likely_benign | 0.2379 | benign | -0.91 | Destabilizing | 0.842 | D | 0.533 | neutral | None | None | None | None | N |
A/P | 0.62 | likely_pathogenic | 0.637 | pathogenic | -0.564 | Destabilizing | 0.966 | D | 0.509 | neutral | D | 0.677136837 | None | None | N |
A/Q | 0.2604 | likely_benign | 0.2566 | benign | -1.124 | Destabilizing | 0.904 | D | 0.499 | neutral | None | None | None | None | N |
A/R | 0.2495 | likely_benign | 0.2517 | benign | -0.79 | Destabilizing | 0.949 | D | 0.515 | neutral | None | None | None | None | N |
A/S | 0.0851 | likely_benign | 0.0838 | benign | -1.238 | Destabilizing | 0.625 | D | 0.533 | neutral | N | 0.504170429 | None | None | N |
A/T | 0.082 | likely_benign | 0.0784 | benign | -1.219 | Destabilizing | 0.801 | D | 0.461 | neutral | N | 0.51334847 | None | None | N |
A/V | 0.1371 | likely_benign | 0.1315 | benign | -0.564 | Destabilizing | 0.891 | D | 0.465 | neutral | N | 0.504524326 | None | None | N |
A/W | 0.7588 | likely_pathogenic | 0.7408 | pathogenic | -1.343 | Destabilizing | 0.998 | D | 0.659 | neutral | None | None | None | None | N |
A/Y | 0.4867 | ambiguous | 0.4683 | ambiguous | -0.978 | Destabilizing | 0.991 | D | 0.594 | 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.