Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16097 | 48514;48515;48516 | chr2:178616502;178616501;178616500 | chr2:179481229;179481228;179481227 |
| N2AB | 14456 | 43591;43592;43593 | chr2:178616502;178616501;178616500 | chr2:179481229;179481228;179481227 |
| N2A | 13529 | 40810;40811;40812 | chr2:178616502;178616501;178616500 | chr2:179481229;179481228;179481227 |
| N2B | 7032 | 21319;21320;21321 | chr2:178616502;178616501;178616500 | chr2:179481229;179481228;179481227 |
| Novex-1 | 7157 | 21694;21695;21696 | chr2:178616502;178616501;178616500 | chr2:179481229;179481228;179481227 |
| Novex-2 | 7224 | 21895;21896;21897 | chr2:178616502;178616501;178616500 | chr2:179481229;179481228;179481227 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs550894260  |
-0.414 | 0.055 | N | 0.412 | 0.037 | 0.248417906384 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| V/I | rs550894260 |
-0.414 | 0.055 | N | 0.412 | 0.037 | 0.248417906384 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14766E-04 | 0 |
| V/I | rs550894260 |
-0.414 | 0.055 | N | 0.412 | 0.037 | 0.248417906384 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 2E-03 | None |
| V/I | rs550894260 |
-0.414 | 0.055 | N | 0.412 | 0.037 | 0.248417906384 | gnomAD-4.0.0 | 3.10125E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23494E-05 | None | 0 | 0 | 0 | 4.39609E-05 | 0 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1564 | likely_benign | 0.1342 | benign | -1.292 | Destabilizing | 0.001 | N | 0.181 | neutral | N | 0.446551729 | None | None | N |
| V/C | 0.6799 | likely_pathogenic | 0.6628 | pathogenic | -0.921 | Destabilizing | 0.968 | D | 0.529 | neutral | None | None | None | None | N |
| V/D | 0.5985 | likely_pathogenic | 0.4948 | ambiguous | -0.933 | Destabilizing | 0.667 | D | 0.639 | neutral | N | 0.48155708 | None | None | N |
| V/E | 0.4649 | ambiguous | 0.3819 | ambiguous | -0.96 | Destabilizing | 0.567 | D | 0.578 | neutral | None | None | None | None | N |
| V/F | 0.2414 | likely_benign | 0.193 | benign | -0.996 | Destabilizing | 0.331 | N | 0.507 | neutral | D | 0.533103293 | None | None | N |
| V/G | 0.2309 | likely_benign | 0.1903 | benign | -1.575 | Destabilizing | 0.124 | N | 0.576 | neutral | N | 0.484653662 | None | None | N |
| V/H | 0.6882 | likely_pathogenic | 0.6274 | pathogenic | -1.011 | Destabilizing | 0.968 | D | 0.646 | neutral | None | None | None | None | N |
| V/I | 0.0765 | likely_benign | 0.0755 | benign | -0.636 | Destabilizing | 0.055 | N | 0.412 | neutral | N | 0.479154619 | None | None | N |
| V/K | 0.4907 | ambiguous | 0.4124 | ambiguous | -1.111 | Destabilizing | 0.567 | D | 0.561 | neutral | None | None | None | None | N |
| V/L | 0.1933 | likely_benign | 0.1502 | benign | -0.636 | Destabilizing | 0.001 | N | 0.159 | neutral | N | 0.481778808 | None | None | N |
| V/M | 0.1471 | likely_benign | 0.1041 | benign | -0.525 | Destabilizing | 0.011 | N | 0.171 | neutral | None | None | None | None | N |
| V/N | 0.3631 | ambiguous | 0.2873 | benign | -0.864 | Destabilizing | 0.726 | D | 0.646 | neutral | None | None | None | None | N |
| V/P | 0.613 | likely_pathogenic | 0.5301 | ambiguous | -0.819 | Destabilizing | 0.726 | D | 0.626 | neutral | None | None | None | None | N |
| V/Q | 0.4225 | ambiguous | 0.3515 | ambiguous | -1.06 | Destabilizing | 0.567 | D | 0.631 | neutral | None | None | None | None | N |
| V/R | 0.4825 | ambiguous | 0.4094 | ambiguous | -0.544 | Destabilizing | 0.567 | D | 0.639 | neutral | None | None | None | None | N |
| V/S | 0.218 | likely_benign | 0.1833 | benign | -1.384 | Destabilizing | 0.157 | N | 0.545 | neutral | None | None | None | None | N |
| V/T | 0.2177 | likely_benign | 0.1834 | benign | -1.304 | Destabilizing | 0.272 | N | 0.409 | neutral | None | None | None | None | N |
| V/W | 0.8424 | likely_pathogenic | 0.7977 | pathogenic | -1.123 | Destabilizing | 0.968 | D | 0.69 | prob.neutral | None | None | None | None | N |
| V/Y | 0.5633 | ambiguous | 0.5169 | ambiguous | -0.857 | Destabilizing | 0.726 | D | 0.509 | 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.