Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25442 | 76549;76550;76551 | chr2:178569808;178569807;178569806 | chr2:179434535;179434534;179434533 |
| N2AB | 23801 | 71626;71627;71628 | chr2:178569808;178569807;178569806 | chr2:179434535;179434534;179434533 |
| N2A | 22874 | 68845;68846;68847 | chr2:178569808;178569807;178569806 | chr2:179434535;179434534;179434533 |
| N2B | 16377 | 49354;49355;49356 | chr2:178569808;178569807;178569806 | chr2:179434535;179434534;179434533 |
| Novex-1 | 16502 | 49729;49730;49731 | chr2:178569808;178569807;178569806 | chr2:179434535;179434534;179434533 |
| Novex-2 | 16569 | 49930;49931;49932 | chr2:178569808;178569807;178569806 | chr2:179434535;179434534;179434533 |
| 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 | rs1707475730  |
None | 0.998 | D | 0.647 | 0.551 | 0.768949010136 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs1707475730 |
None | 0.998 | D | 0.647 | 0.551 | 0.768949010136 | gnomAD-4.0.0 | 2.5637E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39406E-06 | 0 | 2.84576E-05 |
| V/L | rs1217166434 |
-0.485 | 0.981 | N | 0.601 | 0.31 | 0.632608894576 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| V/L | rs1217166434 |
-0.485 | 0.981 | N | 0.601 | 0.31 | 0.632608894576 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/L | rs1217166434 |
-0.485 | 0.981 | N | 0.601 | 0.31 | 0.632608894576 | gnomAD-4.0.0 | 6.57886E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47115E-05 | 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 | 0.5152 | ambiguous | 0.5742 | pathogenic | -2.421 | Highly Destabilizing | 0.998 | D | 0.647 | neutral | D | 0.543781438 | None | None | N |
| V/C | 0.9403 | likely_pathogenic | 0.9474 | pathogenic | -2.055 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| V/D | 0.9978 | likely_pathogenic | 0.9981 | pathogenic | -3.556 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.556062796 | None | None | N |
| V/E | 0.9912 | likely_pathogenic | 0.9928 | pathogenic | -3.256 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/F | 0.7557 | likely_pathogenic | 0.7595 | pathogenic | -1.462 | Destabilizing | 0.999 | D | 0.831 | deleterious | D | 0.544288417 | None | None | N |
| V/G | 0.8977 | likely_pathogenic | 0.9194 | pathogenic | -3.026 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | D | 0.556062796 | None | None | N |
| V/H | 0.9967 | likely_pathogenic | 0.9969 | pathogenic | -2.935 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| V/I | 0.0867 | likely_benign | 0.087 | benign | -0.675 | Destabilizing | 0.767 | D | 0.315 | neutral | N | 0.491433847 | None | None | N |
| V/K | 0.9927 | likely_pathogenic | 0.9935 | pathogenic | -2.26 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| V/L | 0.3995 | ambiguous | 0.4377 | ambiguous | -0.675 | Destabilizing | 0.981 | D | 0.601 | neutral | N | 0.480155694 | None | None | N |
| V/M | 0.5036 | ambiguous | 0.5279 | ambiguous | -0.821 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| V/N | 0.9927 | likely_pathogenic | 0.9942 | pathogenic | -2.871 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| V/P | 0.9888 | likely_pathogenic | 0.9902 | pathogenic | -1.236 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| V/Q | 0.9879 | likely_pathogenic | 0.9891 | pathogenic | -2.573 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| V/R | 0.9863 | likely_pathogenic | 0.9873 | pathogenic | -2.21 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| V/S | 0.9311 | likely_pathogenic | 0.946 | pathogenic | -3.412 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| V/T | 0.7269 | likely_pathogenic | 0.7559 | pathogenic | -2.954 | Highly Destabilizing | 0.998 | D | 0.704 | prob.neutral | None | None | None | None | N |
| V/W | 0.9952 | likely_pathogenic | 0.9948 | pathogenic | -2.098 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| V/Y | 0.9834 | likely_pathogenic | 0.9839 | pathogenic | -1.725 | Destabilizing | 1.0 | D | 0.829 | 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.