Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20311 | 61156;61157;61158 | chr2:178590794;178590793;178590792 | chr2:179455521;179455520;179455519 |
| N2AB | 18670 | 56233;56234;56235 | chr2:178590794;178590793;178590792 | chr2:179455521;179455520;179455519 |
| N2A | 17743 | 53452;53453;53454 | chr2:178590794;178590793;178590792 | chr2:179455521;179455520;179455519 |
| N2B | 11246 | 33961;33962;33963 | chr2:178590794;178590793;178590792 | chr2:179455521;179455520;179455519 |
| Novex-1 | 11371 | 34336;34337;34338 | chr2:178590794;178590793;178590792 | chr2:179455521;179455520;179455519 |
| Novex-2 | 11438 | 34537;34538;34539 | chr2:178590794;178590793;178590792 | chr2:179455521;179455520;179455519 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/P | rs373062007  |
None | 1.0 | N | 0.877 | 0.551 | 0.593086074022 | gnomAD-4.0.0 | 1.37439E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80692E-06 | 0 | 0 |
| R/Q | rs373062007 |
-0.976 | 1.0 | N | 0.681 | 0.485 | 0.235664433957 | gnomAD-2.1.1 | 8.97E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 9.28984E-04 | None | 1.98216E-04 | None | 0 | 7.85E-06 | 0 |
| R/Q | rs373062007 |
-0.976 | 1.0 | N | 0.681 | 0.485 | 0.235664433957 | gnomAD-3.1.2 | 7.89E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.16234E-03 | None | 9.42E-05 | 0 | 1.47E-05 | 8.28844E-04 | 0 |
| R/Q | rs373062007 |
-0.976 | 1.0 | N | 0.681 | 0.485 | 0.235664433957 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| R/Q | rs373062007 |
-0.976 | 1.0 | N | 0.681 | 0.485 | 0.235664433957 | gnomAD-4.0.0 | 4.60382E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.4839E-04 | None | 4.69616E-05 | 1.65837E-04 | 6.8095E-06 | 3.5264E-04 | 1.60808E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.947 | likely_pathogenic | 0.9451 | pathogenic | -1.853 | Destabilizing | 0.999 | D | 0.579 | neutral | None | None | None | None | N |
| R/C | 0.4296 | ambiguous | 0.3763 | ambiguous | -1.824 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| R/D | 0.9928 | likely_pathogenic | 0.9912 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| R/E | 0.9161 | likely_pathogenic | 0.9031 | pathogenic | -0.542 | Destabilizing | 0.999 | D | 0.554 | neutral | None | None | None | None | N |
| R/F | 0.9577 | likely_pathogenic | 0.9385 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| R/G | 0.8975 | likely_pathogenic | 0.8671 | pathogenic | -2.192 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.497452438 | None | None | N |
| R/H | 0.3388 | likely_benign | 0.2758 | benign | -2.071 | Highly Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| R/I | 0.9228 | likely_pathogenic | 0.9165 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| R/K | 0.159 | likely_benign | 0.1639 | benign | -1.349 | Destabilizing | 0.998 | D | 0.423 | neutral | None | None | None | None | N |
| R/L | 0.7254 | likely_pathogenic | 0.7302 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.491919029 | None | None | N |
| R/M | 0.7939 | likely_pathogenic | 0.7719 | pathogenic | -1.337 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| R/N | 0.9728 | likely_pathogenic | 0.9646 | pathogenic | -1.145 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| R/P | 0.9971 | likely_pathogenic | 0.9971 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.877 | deleterious | N | 0.492932988 | None | None | N |
| R/Q | 0.2682 | likely_benign | 0.2418 | benign | -1.133 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | N | 0.521385821 | None | None | N |
| R/S | 0.9737 | likely_pathogenic | 0.9656 | pathogenic | -2.103 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| R/T | 0.9422 | likely_pathogenic | 0.9328 | pathogenic | -1.7 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| R/V | 0.9304 | likely_pathogenic | 0.9262 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| R/W | 0.6585 | likely_pathogenic | 0.5561 | ambiguous | -0.751 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| R/Y | 0.8898 | likely_pathogenic | 0.839 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.9 | 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.