Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25945 | 78058;78059;78060 | chr2:178568299;178568298;178568297 | chr2:179433026;179433025;179433024 |
| N2AB | 24304 | 73135;73136;73137 | chr2:178568299;178568298;178568297 | chr2:179433026;179433025;179433024 |
| N2A | 23377 | 70354;70355;70356 | chr2:178568299;178568298;178568297 | chr2:179433026;179433025;179433024 |
| N2B | 16880 | 50863;50864;50865 | chr2:178568299;178568298;178568297 | chr2:179433026;179433025;179433024 |
| Novex-1 | 17005 | 51238;51239;51240 | chr2:178568299;178568298;178568297 | chr2:179433026;179433025;179433024 |
| Novex-2 | 17072 | 51439;51440;51441 | chr2:178568299;178568298;178568297 | chr2:179433026;179433025;179433024 |
| 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/A | rs1266064359  |
-1.921 | 0.489 | N | 0.603 | 0.337 | 0.489243007833 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 9.29E-05 | 0 | 0 |
| V/A | rs1266064359 |
-1.921 | 0.489 | N | 0.603 | 0.337 | 0.489243007833 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 0 | 0 | 0 |
| V/A | rs1266064359 |
-1.921 | 0.489 | N | 0.603 | 0.337 | 0.489243007833 | gnomAD-4.0.0 | 6.81817E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.09341E-04 | 0 | 3.39089E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7062 | likely_pathogenic | 0.6347 | pathogenic | -1.714 | Destabilizing | 0.489 | N | 0.603 | neutral | N | 0.474149807 | None | None | N |
| V/C | 0.9501 | likely_pathogenic | 0.9281 | pathogenic | -1.381 | Destabilizing | 0.998 | D | 0.675 | prob.neutral | None | None | None | None | N |
| V/D | 0.9956 | likely_pathogenic | 0.9936 | pathogenic | -1.557 | Destabilizing | 0.942 | D | 0.792 | deleterious | N | 0.476911739 | None | None | N |
| V/E | 0.9831 | likely_pathogenic | 0.9752 | pathogenic | -1.394 | Destabilizing | 0.956 | D | 0.703 | prob.neutral | None | None | None | None | N |
| V/F | 0.8864 | likely_pathogenic | 0.8089 | pathogenic | -1.005 | Destabilizing | 0.942 | D | 0.703 | prob.neutral | N | 0.488801476 | None | None | N |
| V/G | 0.9317 | likely_pathogenic | 0.9102 | pathogenic | -2.206 | Highly Destabilizing | 0.89 | D | 0.75 | deleterious | N | 0.467197594 | None | None | N |
| V/H | 0.9946 | likely_pathogenic | 0.9904 | pathogenic | -1.843 | Destabilizing | 0.998 | D | 0.776 | deleterious | None | None | None | None | N |
| V/I | 0.1027 | likely_benign | 0.0788 | benign | -0.384 | Destabilizing | 0.489 | N | 0.615 | neutral | N | 0.481365995 | None | None | N |
| V/K | 0.9878 | likely_pathogenic | 0.9802 | pathogenic | -1.306 | Destabilizing | 0.956 | D | 0.706 | prob.neutral | None | None | None | None | N |
| V/L | 0.6241 | likely_pathogenic | 0.4521 | ambiguous | -0.384 | Destabilizing | 0.014 | N | 0.315 | neutral | N | 0.49325507 | None | None | N |
| V/M | 0.5786 | likely_pathogenic | 0.4247 | ambiguous | -0.494 | Destabilizing | 0.956 | D | 0.671 | neutral | None | None | None | None | N |
| V/N | 0.97 | likely_pathogenic | 0.9496 | pathogenic | -1.436 | Destabilizing | 0.956 | D | 0.785 | deleterious | None | None | None | None | N |
| V/P | 0.984 | likely_pathogenic | 0.9812 | pathogenic | -0.795 | Destabilizing | 0.978 | D | 0.724 | prob.delet. | None | None | None | None | N |
| V/Q | 0.9756 | likely_pathogenic | 0.9612 | pathogenic | -1.343 | Destabilizing | 0.956 | D | 0.724 | prob.delet. | None | None | None | None | N |
| V/R | 0.9803 | likely_pathogenic | 0.9709 | pathogenic | -1.133 | Destabilizing | 0.956 | D | 0.792 | deleterious | None | None | None | None | N |
| V/S | 0.9073 | likely_pathogenic | 0.8663 | pathogenic | -2.151 | Highly Destabilizing | 0.16 | N | 0.491 | neutral | None | None | None | None | N |
| V/T | 0.7106 | likely_pathogenic | 0.6285 | pathogenic | -1.839 | Destabilizing | 0.754 | D | 0.608 | neutral | None | None | None | None | N |
| V/W | 0.998 | likely_pathogenic | 0.9959 | pathogenic | -1.374 | Destabilizing | 0.998 | D | 0.745 | deleterious | None | None | None | None | N |
| V/Y | 0.9897 | likely_pathogenic | 0.9819 | pathogenic | -0.99 | Destabilizing | 0.993 | D | 0.697 | prob.neutral | 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.