Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29064 | 87415;87416;87417 | chr2:178558164;178558163;178558162 | chr2:179422891;179422890;179422889 |
| N2AB | 27423 | 82492;82493;82494 | chr2:178558164;178558163;178558162 | chr2:179422891;179422890;179422889 |
| N2A | 26496 | 79711;79712;79713 | chr2:178558164;178558163;178558162 | chr2:179422891;179422890;179422889 |
| N2B | 19999 | 60220;60221;60222 | chr2:178558164;178558163;178558162 | chr2:179422891;179422890;179422889 |
| Novex-1 | 20124 | 60595;60596;60597 | chr2:178558164;178558163;178558162 | chr2:179422891;179422890;179422889 |
| Novex-2 | 20191 | 60796;60797;60798 | chr2:178558164;178558163;178558162 | chr2:179422891;179422890;179422889 |
| 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 | 0.826 | N | 0.627 | 0.31 | 0.492336895404 | gnomAD-4.0.0 | 2.73691E-06 | None | None | None | None | N | None | 2.98704E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79888E-06 | 1.15942E-05 | 0 |
| V/I | rs1233850583  |
-0.188 | 0.134 | N | 0.298 | 0.145 | 0.346768085243 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.97E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs1233850583 |
-0.188 | 0.134 | N | 0.298 | 0.145 | 0.346768085243 | gnomAD-4.0.0 | 1.59142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02371E-05 |
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 | 0.2586 | likely_benign | 0.2296 | benign | -1.926 | Destabilizing | 0.826 | D | 0.627 | neutral | N | 0.520879681 | None | None | N |
| V/C | 0.8023 | likely_pathogenic | 0.7549 | pathogenic | -1.533 | Destabilizing | 0.046 | N | 0.521 | neutral | None | None | None | None | N |
| V/D | 0.9675 | likely_pathogenic | 0.9394 | pathogenic | -1.933 | Destabilizing | 0.996 | D | 0.848 | deleterious | N | 0.521053039 | None | None | N |
| V/E | 0.9296 | likely_pathogenic | 0.8865 | pathogenic | -1.756 | Destabilizing | 0.997 | D | 0.818 | deleterious | None | None | None | None | N |
| V/F | 0.2534 | likely_benign | 0.2001 | benign | -1.197 | Destabilizing | 0.035 | N | 0.569 | neutral | N | 0.442714394 | None | None | N |
| V/G | 0.6416 | likely_pathogenic | 0.5721 | pathogenic | -2.419 | Highly Destabilizing | 0.988 | D | 0.821 | deleterious | N | 0.521053039 | None | None | N |
| V/H | 0.9624 | likely_pathogenic | 0.9385 | pathogenic | -1.892 | Destabilizing | 0.999 | D | 0.847 | deleterious | None | None | None | None | N |
| V/I | 0.0853 | likely_benign | 0.0831 | benign | -0.582 | Destabilizing | 0.134 | N | 0.298 | neutral | N | 0.40349515 | None | None | N |
| V/K | 0.9509 | likely_pathogenic | 0.923 | pathogenic | -1.652 | Destabilizing | 0.997 | D | 0.811 | deleterious | None | None | None | None | N |
| V/L | 0.2735 | likely_benign | 0.2346 | benign | -0.582 | Destabilizing | 0.509 | D | 0.489 | neutral | N | 0.381164503 | None | None | N |
| V/M | 0.216 | likely_benign | 0.1876 | benign | -0.607 | Destabilizing | 0.991 | D | 0.631 | neutral | None | None | None | None | N |
| V/N | 0.9313 | likely_pathogenic | 0.8914 | pathogenic | -1.844 | Destabilizing | 0.997 | D | 0.859 | deleterious | None | None | None | None | N |
| V/P | 0.9789 | likely_pathogenic | 0.9632 | pathogenic | -1.0 | Destabilizing | 0.997 | D | 0.837 | deleterious | None | None | None | None | N |
| V/Q | 0.9266 | likely_pathogenic | 0.8903 | pathogenic | -1.74 | Destabilizing | 0.997 | D | 0.836 | deleterious | None | None | None | None | N |
| V/R | 0.9242 | likely_pathogenic | 0.8863 | pathogenic | -1.391 | Destabilizing | 0.997 | D | 0.858 | deleterious | None | None | None | None | N |
| V/S | 0.7469 | likely_pathogenic | 0.6822 | pathogenic | -2.515 | Highly Destabilizing | 0.969 | D | 0.782 | deleterious | None | None | None | None | N |
| V/T | 0.3835 | ambiguous | 0.3468 | ambiguous | -2.18 | Highly Destabilizing | 0.969 | D | 0.643 | neutral | None | None | None | None | N |
| V/W | 0.9241 | likely_pathogenic | 0.8808 | pathogenic | -1.524 | Destabilizing | 0.999 | D | 0.839 | deleterious | None | None | None | None | N |
| V/Y | 0.8016 | likely_pathogenic | 0.7171 | pathogenic | -1.176 | Destabilizing | 0.964 | D | 0.756 | 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.