Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32957 | 99094;99095;99096 | chr2:178539066;178539065;178539064 | chr2:179403793;179403792;179403791 |
| N2AB | 31316 | 94171;94172;94173 | chr2:178539066;178539065;178539064 | chr2:179403793;179403792;179403791 |
| N2A | 30389 | 91390;91391;91392 | chr2:178539066;178539065;178539064 | chr2:179403793;179403792;179403791 |
| N2B | 23892 | 71899;71900;71901 | chr2:178539066;178539065;178539064 | chr2:179403793;179403792;179403791 |
| Novex-1 | 24017 | 72274;72275;72276 | chr2:178539066;178539065;178539064 | chr2:179403793;179403792;179403791 |
| Novex-2 | 24084 | 72475;72476;72477 | chr2:178539066;178539065;178539064 | chr2:179403793;179403792;179403791 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs545990990  |
-1.484 | 1.0 | N | 0.791 | 0.434 | 0.594452868026 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92976E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | rs545990990 |
-1.484 | 1.0 | N | 0.791 | 0.434 | 0.594452868026 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| Y/C | rs545990990 |
-1.484 | 1.0 | N | 0.791 | 0.434 | 0.594452868026 | gnomAD-4.0.0 | 6.56814E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93424E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | rs1267513093 |
-1.49 | 1.0 | N | 0.751 | 0.536 | 0.499281839539 | 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 |
| Y/H | rs1267513093 |
-1.49 | 1.0 | N | 0.751 | 0.536 | 0.499281839539 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Y/H | rs1267513093 |
-1.49 | 1.0 | N | 0.751 | 0.536 | 0.499281839539 | gnomAD-4.0.0 | 6.57341E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4702E-05 | 0 | 0 |
| Y/N | None | None | 1.0 | N | 0.795 | 0.613 | 0.827634584912 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.947 | likely_pathogenic | 0.8969 | pathogenic | -2.475 | Highly Destabilizing | 0.998 | D | 0.627 | neutral | None | None | None | None | N |
| Y/C | 0.498 | ambiguous | 0.3433 | ambiguous | -1.664 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.465420682 | None | None | N |
| Y/D | 0.9751 | likely_pathogenic | 0.9433 | pathogenic | -2.155 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.503292243 | None | None | N |
| Y/E | 0.9893 | likely_pathogenic | 0.9748 | pathogenic | -1.996 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| Y/F | 0.1148 | likely_benign | 0.1045 | benign | -1.006 | Destabilizing | 0.434 | N | 0.365 | neutral | N | 0.431268036 | None | None | N |
| Y/G | 0.9236 | likely_pathogenic | 0.8707 | pathogenic | -2.844 | Highly Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| Y/H | 0.7271 | likely_pathogenic | 0.5694 | pathogenic | -1.362 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.507710022 | None | None | N |
| Y/I | 0.9354 | likely_pathogenic | 0.8879 | pathogenic | -1.297 | Destabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | N |
| Y/K | 0.9852 | likely_pathogenic | 0.9659 | pathogenic | -1.978 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| Y/L | 0.8711 | likely_pathogenic | 0.7818 | pathogenic | -1.297 | Destabilizing | 0.994 | D | 0.481 | neutral | None | None | None | None | N |
| Y/M | 0.9246 | likely_pathogenic | 0.868 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| Y/N | 0.8885 | likely_pathogenic | 0.79 | pathogenic | -2.65 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.514559643 | None | None | N |
| Y/P | 0.999 | likely_pathogenic | 0.9979 | pathogenic | -1.695 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| Y/Q | 0.9719 | likely_pathogenic | 0.9319 | pathogenic | -2.41 | Highly Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| Y/R | 0.9651 | likely_pathogenic | 0.9252 | pathogenic | -1.759 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| Y/S | 0.9051 | likely_pathogenic | 0.8132 | pathogenic | -3.066 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.491428958 | None | None | N |
| Y/T | 0.9641 | likely_pathogenic | 0.9294 | pathogenic | -2.789 | Highly Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| Y/V | 0.8848 | likely_pathogenic | 0.8139 | pathogenic | -1.695 | Destabilizing | 0.997 | D | 0.604 | neutral | None | None | None | None | N |
| Y/W | 0.7804 | likely_pathogenic | 0.7284 | pathogenic | -0.493 | Destabilizing | 1.0 | D | 0.729 | 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.