Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16806 | 50641;50642;50643 | chr2:178611893;178611892;178611891 | chr2:179476620;179476619;179476618 |
| N2AB | 15165 | 45718;45719;45720 | chr2:178611893;178611892;178611891 | chr2:179476620;179476619;179476618 |
| N2A | 14238 | 42937;42938;42939 | chr2:178611893;178611892;178611891 | chr2:179476620;179476619;179476618 |
| N2B | 7741 | 23446;23447;23448 | chr2:178611893;178611892;178611891 | chr2:179476620;179476619;179476618 |
| Novex-1 | 7866 | 23821;23822;23823 | chr2:178611893;178611892;178611891 | chr2:179476620;179476619;179476618 |
| Novex-2 | 7933 | 24022;24023;24024 | chr2:178611893;178611892;178611891 | chr2:179476620;179476619;179476618 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs565897140  |
-0.695 | 1.0 | D | 0.743 | 0.459 | 0.503806528429 | gnomAD-2.1.1 | 4.84E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.37762E-04 | None | 1.9622E-04 | None | 0 | 0 | 0 |
| G/E | rs565897140 |
-0.695 | 1.0 | D | 0.743 | 0.459 | 0.503806528429 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| G/E | rs565897140 |
-0.695 | 1.0 | D | 0.743 | 0.459 | 0.503806528429 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| G/E | rs565897140 |
-0.695 | 1.0 | D | 0.743 | 0.459 | 0.503806528429 | gnomAD-4.0.0 | 9.92055E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11982E-04 | None | 0 | 0 | 8.47992E-07 | 7.69028E-05 | 4.80569E-05 |
| G/V | None | None | 1.0 | N | 0.771 | 0.423 | 0.527557778142 | gnomAD-4.0.0 | 6.84599E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99811E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1806 | likely_benign | 0.172 | benign | -0.511 | Destabilizing | 1.0 | D | 0.597 | neutral | N | 0.475720965 | None | None | N |
| G/C | 0.4544 | ambiguous | 0.3291 | benign | -0.894 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/D | 0.6362 | likely_pathogenic | 0.5057 | ambiguous | -0.853 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/E | 0.581 | likely_pathogenic | 0.4566 | ambiguous | -0.995 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.560484073 | None | None | N |
| G/F | 0.777 | likely_pathogenic | 0.6883 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/H | 0.7925 | likely_pathogenic | 0.6471 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/I | 0.4553 | ambiguous | 0.3938 | ambiguous | -0.481 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| G/K | 0.7913 | likely_pathogenic | 0.6657 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| G/L | 0.5721 | likely_pathogenic | 0.5114 | ambiguous | -0.481 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/M | 0.6933 | likely_pathogenic | 0.595 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| G/N | 0.6076 | likely_pathogenic | 0.4739 | ambiguous | -0.698 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| G/P | 0.8934 | likely_pathogenic | 0.9193 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| G/Q | 0.6983 | likely_pathogenic | 0.5659 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| G/R | 0.7037 | likely_pathogenic | 0.5594 | ambiguous | -0.634 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.497407992 | None | None | N |
| G/S | 0.1609 | likely_benign | 0.1288 | benign | -0.869 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| G/T | 0.3104 | likely_benign | 0.2447 | benign | -0.944 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| G/V | 0.3324 | likely_benign | 0.281 | benign | -0.454 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.454770606 | None | None | N |
| G/W | 0.7656 | likely_pathogenic | 0.6746 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/Y | 0.7601 | likely_pathogenic | 0.6603 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.785 | 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.