Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5834 | 17725;17726;17727 | chr2:178731165;178731164;178731163 | chr2:179595892;179595891;179595890 |
| N2AB | 5517 | 16774;16775;16776 | chr2:178731165;178731164;178731163 | chr2:179595892;179595891;179595890 |
| N2A | 4590 | 13993;13994;13995 | chr2:178731165;178731164;178731163 | chr2:179595892;179595891;179595890 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | None | None | 0.999 | N | 0.479 | 0.656 | 0.725433469916 | gnomAD-4.0.0 | 1.59165E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8591E-06 | 0 | 0 |
| V/I | rs727505221  |
-0.763 | 0.997 | N | 0.482 | 0.442 | 0.731663896529 | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 6.54E-05 | None | 0 | 8.88E-06 | 3.31895E-04 |
| V/I | rs727505221 |
-0.763 | 0.997 | N | 0.482 | 0.442 | 0.731663896529 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/I | rs727505221 |
-0.763 | 0.997 | N | 0.482 | 0.442 | 0.731663896529 | gnomAD-4.0.0 | 4.95821E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22916E-05 | None | 0 | 1.64582E-04 | 5.50994E-05 | 2.19616E-05 | 1.7613E-04 |
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 | 0.529 | ambiguous | 0.6756 | pathogenic | -1.683 | Destabilizing | 0.999 | D | 0.479 | neutral | N | 0.489205638 | None | None | N |
| V/C | 0.9126 | likely_pathogenic | 0.9475 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | N |
| V/D | 0.9621 | likely_pathogenic | 0.9867 | pathogenic | -1.826 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | D | 0.547120162 | None | None | N |
| V/E | 0.93 | likely_pathogenic | 0.9652 | pathogenic | -1.815 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| V/F | 0.7656 | likely_pathogenic | 0.8223 | pathogenic | -1.401 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.523647083 | None | None | N |
| V/G | 0.7668 | likely_pathogenic | 0.8517 | pathogenic | -2.013 | Highly Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.520115137 | None | None | N |
| V/H | 0.9817 | likely_pathogenic | 0.9914 | pathogenic | -1.553 | Destabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | N |
| V/I | 0.1262 | likely_benign | 0.1427 | benign | -0.861 | Destabilizing | 0.997 | D | 0.482 | neutral | N | 0.493916126 | None | None | N |
| V/K | 0.9387 | likely_pathogenic | 0.962 | pathogenic | -1.315 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| V/L | 0.7524 | likely_pathogenic | 0.7996 | pathogenic | -0.861 | Destabilizing | 0.997 | D | 0.504 | neutral | N | 0.492968301 | None | None | N |
| V/M | 0.5319 | ambiguous | 0.6174 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| V/N | 0.9294 | likely_pathogenic | 0.9711 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| V/P | 0.996 | likely_pathogenic | 0.998 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| V/Q | 0.9321 | likely_pathogenic | 0.96 | pathogenic | -1.38 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| V/R | 0.9178 | likely_pathogenic | 0.9421 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| V/S | 0.7963 | likely_pathogenic | 0.9015 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| V/T | 0.5837 | likely_pathogenic | 0.7218 | pathogenic | -1.598 | Destabilizing | 0.999 | D | 0.672 | neutral | None | None | None | None | N |
| V/W | 0.9951 | likely_pathogenic | 0.997 | pathogenic | -1.598 | Destabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | N |
| V/Y | 0.97 | likely_pathogenic | 0.9833 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.715 | 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.