Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16660 | 50203;50204;50205 | chr2:178612547;178612546;178612545 | chr2:179477274;179477273;179477272 |
| N2AB | 15019 | 45280;45281;45282 | chr2:178612547;178612546;178612545 | chr2:179477274;179477273;179477272 |
| N2A | 14092 | 42499;42500;42501 | chr2:178612547;178612546;178612545 | chr2:179477274;179477273;179477272 |
| N2B | 7595 | 23008;23009;23010 | chr2:178612547;178612546;178612545 | chr2:179477274;179477273;179477272 |
| Novex-1 | 7720 | 23383;23384;23385 | chr2:178612547;178612546;178612545 | chr2:179477274;179477273;179477272 |
| Novex-2 | 7787 | 23584;23585;23586 | chr2:178612547;178612546;178612545 | chr2:179477274;179477273;179477272 |
| 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/I | rs757016105  |
-0.438 | 0.997 | N | 0.577 | 0.235 | 0.630051231342 | gnomAD-2.1.1 | 3.71E-05 | None | None | None | None | N | None | 0 | 2.34206E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.69722E-04 |
| V/I | rs757016105 |
-0.438 | 0.997 | N | 0.577 | 0.235 | 0.630051231342 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs757016105 |
-0.438 | 0.997 | N | 0.577 | 0.235 | 0.630051231342 | gnomAD-4.0.0 | 2.44193E-05 | None | None | None | None | N | None | 0 | 3.06018E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.85339E-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 | 0.8481 | likely_pathogenic | 0.8819 | pathogenic | -1.64 | Destabilizing | 0.999 | D | 0.604 | neutral | N | 0.509957037 | None | None | N |
| V/C | 0.9702 | likely_pathogenic | 0.9678 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| V/D | 0.9845 | likely_pathogenic | 0.9943 | pathogenic | -1.538 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.677956175 | None | None | N |
| V/E | 0.968 | likely_pathogenic | 0.9862 | pathogenic | -1.421 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| V/F | 0.8846 | likely_pathogenic | 0.9326 | pathogenic | -1.003 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.525848776 | None | None | N |
| V/G | 0.871 | likely_pathogenic | 0.9293 | pathogenic | -2.061 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.676144902 | None | None | N |
| V/H | 0.9936 | likely_pathogenic | 0.9969 | pathogenic | -1.42 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| V/I | 0.1374 | likely_benign | 0.1398 | benign | -0.532 | Destabilizing | 0.997 | D | 0.577 | neutral | N | 0.479327125 | None | None | N |
| V/K | 0.9711 | likely_pathogenic | 0.989 | pathogenic | -1.43 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| V/L | 0.7792 | likely_pathogenic | 0.8322 | pathogenic | -0.532 | Destabilizing | 0.997 | D | 0.611 | neutral | N | 0.472025288 | None | None | N |
| V/M | 0.7208 | likely_pathogenic | 0.7967 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| V/N | 0.9548 | likely_pathogenic | 0.975 | pathogenic | -1.511 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| V/P | 0.9672 | likely_pathogenic | 0.9625 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| V/Q | 0.9785 | likely_pathogenic | 0.9902 | pathogenic | -1.496 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| V/R | 0.9717 | likely_pathogenic | 0.9888 | pathogenic | -1.056 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| V/S | 0.9358 | likely_pathogenic | 0.9619 | pathogenic | -2.118 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| V/T | 0.8293 | likely_pathogenic | 0.8758 | pathogenic | -1.858 | Destabilizing | 0.999 | D | 0.67 | neutral | None | None | None | None | N |
| V/W | 0.9969 | likely_pathogenic | 0.9986 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/Y | 0.9812 | likely_pathogenic | 0.9906 | pathogenic | -0.932 | Destabilizing | 1.0 | D | 0.867 | 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.