Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32519 | 97780;97781;97782 | chr2:178541522;178541521;178541520 | chr2:179406249;179406248;179406247 |
| N2AB | 30878 | 92857;92858;92859 | chr2:178541522;178541521;178541520 | chr2:179406249;179406248;179406247 |
| N2A | 29951 | 90076;90077;90078 | chr2:178541522;178541521;178541520 | chr2:179406249;179406248;179406247 |
| N2B | 23454 | 70585;70586;70587 | chr2:178541522;178541521;178541520 | chr2:179406249;179406248;179406247 |
| Novex-1 | 23579 | 70960;70961;70962 | chr2:178541522;178541521;178541520 | chr2:179406249;179406248;179406247 |
| Novex-2 | 23646 | 71161;71162;71163 | chr2:178541522;178541521;178541520 | chr2:179406249;179406248;179406247 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/N | rs762862711  |
-1.041 | 1.0 | N | 0.743 | 0.306 | 0.460703734027 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| T/N | rs762862711 |
-1.041 | 1.0 | N | 0.743 | 0.306 | 0.460703734027 | gnomAD-4.0.0 | 4.77925E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.58354E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0914 | likely_benign | 0.0936 | benign | -0.803 | Destabilizing | 0.999 | D | 0.611 | neutral | N | 0.49972247 | None | None | N |
| T/C | 0.3816 | ambiguous | 0.368 | ambiguous | -0.325 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| T/D | 0.5796 | likely_pathogenic | 0.6241 | pathogenic | -1.198 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| T/E | 0.4336 | ambiguous | 0.4848 | ambiguous | -0.961 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| T/F | 0.3109 | likely_benign | 0.3225 | benign | -0.461 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| T/G | 0.2926 | likely_benign | 0.2916 | benign | -1.219 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| T/H | 0.3298 | likely_benign | 0.334 | benign | -1.204 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| T/I | 0.1811 | likely_benign | 0.1848 | benign | 0.303 | Stabilizing | 1.0 | D | 0.838 | deleterious | N | 0.491767672 | None | None | N |
| T/K | 0.328 | likely_benign | 0.3639 | ambiguous | 0.046 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| T/L | 0.1065 | likely_benign | 0.1042 | benign | 0.303 | Stabilizing | 0.999 | D | 0.728 | prob.delet. | None | None | None | None | N |
| T/M | 0.0975 | likely_benign | 0.0981 | benign | 0.028 | Stabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| T/N | 0.1757 | likely_benign | 0.1811 | benign | -0.738 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.476813288 | None | None | N |
| T/P | 0.6637 | likely_pathogenic | 0.6777 | pathogenic | -0.037 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.523696994 | None | None | N |
| T/Q | 0.2737 | likely_benign | 0.2901 | benign | -0.429 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| T/R | 0.2631 | likely_benign | 0.2908 | benign | -0.309 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| T/S | 0.1218 | likely_benign | 0.1202 | benign | -0.945 | Destabilizing | 0.999 | D | 0.575 | neutral | N | 0.453483174 | None | None | N |
| T/V | 0.1528 | likely_benign | 0.1545 | benign | -0.037 | Destabilizing | 0.999 | D | 0.644 | neutral | None | None | None | None | N |
| T/W | 0.6782 | likely_pathogenic | 0.6963 | pathogenic | -0.708 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| T/Y | 0.3423 | ambiguous | 0.3646 | ambiguous | -0.234 | Destabilizing | 1.0 | D | 0.914 | 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.