Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 14972 | 45139;45140;45141 | chr2:178622008;178622007;178622006 | chr2:179486735;179486734;179486733 |
N2AB | 13331 | 40216;40217;40218 | chr2:178622008;178622007;178622006 | chr2:179486735;179486734;179486733 |
N2A | 12404 | 37435;37436;37437 | chr2:178622008;178622007;178622006 | chr2:179486735;179486734;179486733 |
N2B | 5907 | 17944;17945;17946 | chr2:178622008;178622007;178622006 | chr2:179486735;179486734;179486733 |
Novex-1 | 6032 | 18319;18320;18321 | chr2:178622008;178622007;178622006 | chr2:179486735;179486734;179486733 |
Novex-2 | 6099 | 18520;18521;18522 | chr2:178622008;178622007;178622006 | chr2:179486735;179486734;179486733 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
V/F | None | None | 0.991 | D | 0.729 | 0.592 | 0.809165052584 | gnomAD-4.0.0 | 6.90004E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.55337E-05 | None | 0 | 0 | 0 | 0 | 0 |
V/I | None | None | 0.863 | D | 0.547 | 0.314 | 0.620746667299 | gnomAD-4.0.0 | 6.90004E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.04743E-07 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
V/A | 0.5069 | ambiguous | 0.4741 | ambiguous | -1.475 | Destabilizing | 0.046 | N | 0.314 | neutral | D | 0.660556922 | None | None | N |
V/C | 0.9119 | likely_pathogenic | 0.9001 | pathogenic | -0.87 | Destabilizing | 0.998 | D | 0.712 | prob.delet. | None | None | None | None | N |
V/D | 0.9029 | likely_pathogenic | 0.9032 | pathogenic | -1.606 | Destabilizing | 0.991 | D | 0.788 | deleterious | D | 0.782780269 | None | None | N |
V/E | 0.8524 | likely_pathogenic | 0.8614 | pathogenic | -1.529 | Destabilizing | 0.986 | D | 0.785 | deleterious | None | None | None | None | N |
V/F | 0.5735 | likely_pathogenic | 0.5343 | ambiguous | -0.981 | Destabilizing | 0.991 | D | 0.729 | prob.delet. | D | 0.666968894 | None | None | N |
V/G | 0.5193 | ambiguous | 0.5011 | ambiguous | -1.847 | Destabilizing | 0.964 | D | 0.763 | deleterious | D | 0.611558875 | None | None | N |
V/H | 0.9718 | likely_pathogenic | 0.97 | pathogenic | -1.346 | Destabilizing | 0.999 | D | 0.791 | deleterious | None | None | None | None | N |
V/I | 0.1403 | likely_benign | 0.1354 | benign | -0.521 | Destabilizing | 0.863 | D | 0.547 | neutral | D | 0.524127032 | None | None | N |
V/K | 0.9402 | likely_pathogenic | 0.9429 | pathogenic | -1.304 | Destabilizing | 0.986 | D | 0.784 | deleterious | None | None | None | None | N |
V/L | 0.5912 | likely_pathogenic | 0.5635 | ambiguous | -0.521 | Destabilizing | 0.863 | D | 0.578 | neutral | D | 0.619365354 | None | None | N |
V/M | 0.5343 | ambiguous | 0.5 | ambiguous | -0.414 | Destabilizing | 0.998 | D | 0.702 | prob.neutral | None | None | None | None | N |
V/N | 0.8758 | likely_pathogenic | 0.8807 | pathogenic | -1.266 | Destabilizing | 0.993 | D | 0.793 | deleterious | None | None | None | None | N |
V/P | 0.7437 | likely_pathogenic | 0.7612 | pathogenic | -0.807 | Destabilizing | 0.993 | D | 0.785 | deleterious | None | None | None | None | N |
V/Q | 0.9079 | likely_pathogenic | 0.9082 | pathogenic | -1.331 | Destabilizing | 0.993 | D | 0.793 | deleterious | None | None | None | None | N |
V/R | 0.927 | likely_pathogenic | 0.9298 | pathogenic | -0.859 | Destabilizing | 0.993 | D | 0.785 | deleterious | None | None | None | None | N |
V/S | 0.7489 | likely_pathogenic | 0.7345 | pathogenic | -1.762 | Destabilizing | 0.973 | D | 0.764 | deleterious | None | None | None | None | N |
V/T | 0.6021 | likely_pathogenic | 0.592 | pathogenic | -1.567 | Destabilizing | 0.953 | D | 0.605 | neutral | None | None | None | None | N |
V/W | 0.9747 | likely_pathogenic | 0.9701 | pathogenic | -1.29 | Destabilizing | 0.999 | D | 0.786 | deleterious | None | None | None | None | N |
V/Y | 0.9117 | likely_pathogenic | 0.9059 | pathogenic | -0.938 | Destabilizing | 0.998 | D | 0.72 | prob.delet. | 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.