Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26173 | 78742;78743;78744 | chr2:178567615;178567614;178567613 | chr2:179432342;179432341;179432340 |
| N2AB | 24532 | 73819;73820;73821 | chr2:178567615;178567614;178567613 | chr2:179432342;179432341;179432340 |
| N2A | 23605 | 71038;71039;71040 | chr2:178567615;178567614;178567613 | chr2:179432342;179432341;179432340 |
| N2B | 17108 | 51547;51548;51549 | chr2:178567615;178567614;178567613 | chr2:179432342;179432341;179432340 |
| Novex-1 | 17233 | 51922;51923;51924 | chr2:178567615;178567614;178567613 | chr2:179432342;179432341;179432340 |
| Novex-2 | 17300 | 52123;52124;52125 | chr2:178567615;178567614;178567613 | chr2:179432342;179432341;179432340 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/R | rs771241552  |
-0.923 | 1.0 | D | 0.863 | 0.523 | 0.309530620856 | gnomAD-2.1.1 | 2.83E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.25E-05 | 0 |
| S/R | rs771241552 |
-0.923 | 1.0 | D | 0.863 | 0.523 | 0.309530620856 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| S/R | rs771241552 |
-0.923 | 1.0 | D | 0.863 | 0.523 | 0.309530620856 | gnomAD-4.0.0 | 5.58303E-05 | None | None | None | None | N | None | 2.67065E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.296E-05 | 0 | 3.20626E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.6747 | likely_pathogenic | 0.6375 | pathogenic | -0.641 | Destabilizing | 0.998 | D | 0.719 | prob.delet. | None | None | None | None | N |
| S/C | 0.8575 | likely_pathogenic | 0.8227 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.548186215 | None | None | N |
| S/D | 0.9972 | likely_pathogenic | 0.9962 | pathogenic | -1.113 | Destabilizing | 0.999 | D | 0.776 | deleterious | None | None | None | None | N |
| S/E | 0.998 | likely_pathogenic | 0.9976 | pathogenic | -1.03 | Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | N |
| S/F | 0.9974 | likely_pathogenic | 0.9959 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | None | None | N |
| S/G | 0.4256 | ambiguous | 0.3819 | ambiguous | -0.981 | Destabilizing | 0.999 | D | 0.75 | deleterious | N | 0.455889016 | None | None | N |
| S/H | 0.9958 | likely_pathogenic | 0.9944 | pathogenic | -1.488 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| S/I | 0.9959 | likely_pathogenic | 0.9938 | pathogenic | 0.184 | Stabilizing | 1.0 | D | 0.918 | deleterious | D | 0.548439705 | None | None | N |
| S/K | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -0.893 | Destabilizing | 0.999 | D | 0.761 | deleterious | None | None | None | None | N |
| S/L | 0.9747 | likely_pathogenic | 0.9608 | pathogenic | 0.184 | Stabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| S/M | 0.9891 | likely_pathogenic | 0.9844 | pathogenic | 0.326 | Stabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| S/N | 0.9861 | likely_pathogenic | 0.9816 | pathogenic | -1.157 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | D | 0.547172257 | None | None | N |
| S/P | 0.9965 | likely_pathogenic | 0.9943 | pathogenic | -0.055 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| S/Q | 0.9967 | likely_pathogenic | 0.9961 | pathogenic | -1.119 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| S/R | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -0.973 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.547425747 | None | None | N |
| S/T | 0.8358 | likely_pathogenic | 0.8034 | pathogenic | -0.941 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | D | 0.536069441 | None | None | N |
| S/V | 0.9927 | likely_pathogenic | 0.99 | pathogenic | -0.055 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| S/W | 0.9972 | likely_pathogenic | 0.9957 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| S/Y | 0.9962 | likely_pathogenic | 0.9941 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.931 | 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.