Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27560 | 82903;82904;82905 | chr2:178563454;178563453;178563452 | chr2:179428181;179428180;179428179 |
| N2AB | 25919 | 77980;77981;77982 | chr2:178563454;178563453;178563452 | chr2:179428181;179428180;179428179 |
| N2A | 24992 | 75199;75200;75201 | chr2:178563454;178563453;178563452 | chr2:179428181;179428180;179428179 |
| N2B | 18495 | 55708;55709;55710 | chr2:178563454;178563453;178563452 | chr2:179428181;179428180;179428179 |
| Novex-1 | 18620 | 56083;56084;56085 | chr2:178563454;178563453;178563452 | chr2:179428181;179428180;179428179 |
| Novex-2 | 18687 | 56284;56285;56286 | chr2:178563454;178563453;178563452 | chr2:179428181;179428180;179428179 |
| 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 | rs937165329  |
-0.055 | 0.001 | N | 0.081 | 0.076 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14837E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs937165329 |
-0.055 | 0.001 | N | 0.081 | 0.076 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs937165329 |
-0.055 | 0.001 | N | 0.081 | 0.076 | None | gnomAD-4.0.0 | 1.97293E-05 | None | None | None | None | N | None | 7.23938E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs937165329 |
None | 0.001 | N | 0.096 | 0.095 | 0.186928172975 | gnomAD-4.0.0 | 1.59146E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02462E-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 | 0.0965 | likely_benign | 0.1114 | benign | -0.778 | Destabilizing | 0.085 | N | 0.268 | neutral | N | 0.440882023 | None | None | N |
| V/C | 0.5085 | ambiguous | 0.5262 | ambiguous | -0.705 | Destabilizing | 0.98 | D | 0.344 | neutral | None | None | None | None | N |
| V/D | 0.1869 | likely_benign | 0.1946 | benign | -0.019 | Destabilizing | 0.183 | N | 0.477 | neutral | N | 0.423624414 | None | None | N |
| V/E | 0.1743 | likely_benign | 0.1833 | benign | -0.032 | Destabilizing | 0.003 | N | 0.289 | neutral | None | None | None | None | N |
| V/F | 0.1298 | likely_benign | 0.1465 | benign | -0.582 | Destabilizing | 0.61 | D | 0.496 | neutral | N | 0.461868449 | None | None | N |
| V/G | 0.1264 | likely_benign | 0.1455 | benign | -1.001 | Destabilizing | 0.183 | N | 0.465 | neutral | N | 0.48017113 | None | None | N |
| V/H | 0.3607 | ambiguous | 0.3851 | ambiguous | -0.169 | Destabilizing | 0.808 | D | 0.404 | neutral | None | None | None | None | N |
| V/I | 0.0669 | likely_benign | 0.0688 | benign | -0.29 | Destabilizing | 0.001 | N | 0.081 | neutral | N | 0.514686348 | None | None | N |
| V/K | 0.2313 | likely_benign | 0.236 | benign | -0.412 | Destabilizing | 0.229 | N | 0.412 | neutral | None | None | None | None | N |
| V/L | 0.0871 | likely_benign | 0.0975 | benign | -0.29 | Destabilizing | 0.001 | N | 0.096 | neutral | N | 0.47716811 | None | None | N |
| V/M | 0.0978 | likely_benign | 0.1098 | benign | -0.53 | Destabilizing | 0.675 | D | 0.425 | neutral | None | None | None | None | N |
| V/N | 0.1332 | likely_benign | 0.1462 | benign | -0.379 | Destabilizing | 0.372 | N | 0.541 | neutral | None | None | None | None | N |
| V/P | 0.148 | likely_benign | 0.1714 | benign | -0.419 | Destabilizing | 0.808 | D | 0.511 | neutral | None | None | None | None | N |
| V/Q | 0.2099 | likely_benign | 0.2228 | benign | -0.469 | Destabilizing | 0.051 | N | 0.359 | neutral | None | None | None | None | N |
| V/R | 0.2089 | likely_benign | 0.207 | benign | 0.015 | Stabilizing | 0.675 | D | 0.549 | neutral | None | None | None | None | N |
| V/S | 0.1107 | likely_benign | 0.1234 | benign | -0.899 | Destabilizing | 0.008 | N | 0.414 | neutral | None | None | None | None | N |
| V/T | 0.1209 | likely_benign | 0.1334 | benign | -0.791 | Destabilizing | 0.229 | N | 0.278 | neutral | None | None | None | None | N |
| V/W | 0.6596 | likely_pathogenic | 0.7039 | pathogenic | -0.671 | Destabilizing | 0.98 | D | 0.462 | neutral | None | None | None | None | N |
| V/Y | 0.3709 | ambiguous | 0.3858 | ambiguous | -0.377 | Destabilizing | 0.808 | D | 0.458 | 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.