Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26626 | 80101;80102;80103 | chr2:178566256;178566255;178566254 | chr2:179430983;179430982;179430981 |
| N2AB | 24985 | 75178;75179;75180 | chr2:178566256;178566255;178566254 | chr2:179430983;179430982;179430981 |
| N2A | 24058 | 72397;72398;72399 | chr2:178566256;178566255;178566254 | chr2:179430983;179430982;179430981 |
| N2B | 17561 | 52906;52907;52908 | chr2:178566256;178566255;178566254 | chr2:179430983;179430982;179430981 |
| Novex-1 | 17686 | 53281;53282;53283 | chr2:178566256;178566255;178566254 | chr2:179430983;179430982;179430981 |
| Novex-2 | 17753 | 53482;53483;53484 | chr2:178566256;178566255;178566254 | chr2:179430983;179430982;179430981 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | None | None | 1.0 | D | 0.868 | 0.917 | 0.94079955673 | gnomAD-4.0.0 | 3.18289E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.53562E-05 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9964 | likely_pathogenic | 0.9957 | pathogenic | -2.416 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| W/C | 0.9982 | likely_pathogenic | 0.9978 | pathogenic | -1.395 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.70794091 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.054 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.908 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| W/F | 0.6796 | likely_pathogenic | 0.6647 | pathogenic | -1.519 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| W/G | 0.9918 | likely_pathogenic | 0.9901 | pathogenic | -2.687 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.707739105 | None | None | N |
| W/H | 0.9983 | likely_pathogenic | 0.9979 | pathogenic | -2.307 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| W/I | 0.9696 | likely_pathogenic | 0.9667 | pathogenic | -1.408 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.337 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| W/L | 0.9546 | likely_pathogenic | 0.9467 | pathogenic | -1.408 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.707739105 | None | None | N |
| W/M | 0.9918 | likely_pathogenic | 0.9907 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| W/N | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -3.142 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| W/P | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -1.772 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.792 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| W/R | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.508 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.70794091 | None | None | N |
| W/S | 0.9971 | likely_pathogenic | 0.9964 | pathogenic | -3.2 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.70794091 | None | None | N |
| W/T | 0.9978 | likely_pathogenic | 0.9973 | pathogenic | -2.967 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| W/V | 0.9785 | likely_pathogenic | 0.9758 | pathogenic | -1.772 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| W/Y | 0.942 | likely_pathogenic | 0.9337 | pathogenic | -1.408 | Destabilizing | 1.0 | D | 0.824 | 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.