Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20975 | 63148;63149;63150 | chr2:178588802;178588801;178588800 | chr2:179453529;179453528;179453527 |
| N2AB | 19334 | 58225;58226;58227 | chr2:178588802;178588801;178588800 | chr2:179453529;179453528;179453527 |
| N2A | 18407 | 55444;55445;55446 | chr2:178588802;178588801;178588800 | chr2:179453529;179453528;179453527 |
| N2B | 11910 | 35953;35954;35955 | chr2:178588802;178588801;178588800 | chr2:179453529;179453528;179453527 |
| Novex-1 | 12035 | 36328;36329;36330 | chr2:178588802;178588801;178588800 | chr2:179453529;179453528;179453527 |
| Novex-2 | 12102 | 36529;36530;36531 | chr2:178588802;178588801;178588800 | chr2:179453529;179453528;179453527 |
| 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/A | rs758558735  |
-1.565 | 0.992 | N | 0.474 | 0.34 | 0.542318960711 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| V/A | rs758558735 |
-1.565 | 0.992 | N | 0.474 | 0.34 | 0.542318960711 | gnomAD-4.0.0 | 1.59228E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85974E-06 | 0 | 0 |
| V/E | rs758558735 |
None | 1.0 | N | 0.812 | 0.52 | 0.764146775576 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| V/E | rs758558735 |
None | 1.0 | N | 0.812 | 0.52 | 0.764146775576 | gnomAD-4.0.0 | 1.59228E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77979E-05 | None | 0 | 0 | 0 | 0 | 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 | 0.4476 | ambiguous | 0.3031 | benign | -1.505 | Destabilizing | 0.992 | D | 0.474 | neutral | N | 0.489065546 | None | None | N |
| V/C | 0.8103 | likely_pathogenic | 0.7187 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| V/D | 0.8822 | likely_pathogenic | 0.723 | pathogenic | -1.722 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/E | 0.6971 | likely_pathogenic | 0.5307 | ambiguous | -1.717 | Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.498048322 | None | None | N |
| V/F | 0.4437 | ambiguous | 0.3132 | benign | -1.359 | Destabilizing | 0.999 | D | 0.808 | deleterious | None | None | None | None | N |
| V/G | 0.5855 | likely_pathogenic | 0.3902 | ambiguous | -1.812 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.517673514 | None | None | N |
| V/H | 0.8776 | likely_pathogenic | 0.7679 | pathogenic | -1.446 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| V/I | 0.0792 | likely_benign | 0.0735 | benign | -0.755 | Destabilizing | 0.619 | D | 0.277 | neutral | N | 0.414180998 | None | None | N |
| V/K | 0.7082 | likely_pathogenic | 0.543 | ambiguous | -1.151 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| V/L | 0.5038 | ambiguous | 0.3291 | benign | -0.755 | Destabilizing | 0.962 | D | 0.399 | neutral | N | 0.496452878 | None | None | N |
| V/M | 0.3539 | ambiguous | 0.2363 | benign | -0.688 | Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | N |
| V/N | 0.733 | likely_pathogenic | 0.517 | ambiguous | -1.051 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| V/P | 0.8138 | likely_pathogenic | 0.6346 | pathogenic | -0.972 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| V/Q | 0.6702 | likely_pathogenic | 0.502 | ambiguous | -1.252 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| V/R | 0.6455 | likely_pathogenic | 0.463 | ambiguous | -0.715 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| V/S | 0.5913 | likely_pathogenic | 0.3789 | ambiguous | -1.564 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| V/T | 0.4236 | ambiguous | 0.272 | benign | -1.451 | Destabilizing | 0.997 | D | 0.641 | neutral | None | None | None | None | N |
| V/W | 0.9388 | likely_pathogenic | 0.8808 | pathogenic | -1.561 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| V/Y | 0.7875 | likely_pathogenic | 0.6602 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.819 | deleterious | 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.