Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2541 | 7846;7847;7848 | chr2:178773343;178773342;178773341 | chr2:179638070;179638069;179638068 |
| N2AB | 2541 | 7846;7847;7848 | chr2:178773343;178773342;178773341 | chr2:179638070;179638069;179638068 |
| N2A | 2541 | 7846;7847;7848 | chr2:178773343;178773342;178773341 | chr2:179638070;179638069;179638068 |
| N2B | 2495 | 7708;7709;7710 | chr2:178773343;178773342;178773341 | chr2:179638070;179638069;179638068 |
| Novex-1 | 2495 | 7708;7709;7710 | chr2:178773343;178773342;178773341 | chr2:179638070;179638069;179638068 |
| Novex-2 | 2495 | 7708;7709;7710 | chr2:178773343;178773342;178773341 | chr2:179638070;179638069;179638068 |
| Novex-3 | 2541 | 7846;7847;7848 | chr2:178773343;178773342;178773341 | chr2:179638070;179638069;179638068 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs2091808805  |
None | 0.996 | D | 0.411 | 0.318 | 0.341934017632 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/Y | rs1462842843 |
None | 1.0 | D | 0.743 | 0.477 | 0.576874179423 | gnomAD-4.0.0 | 3.18167E-06 | None | None | None | None | N | None | 5.65419E-05 | 0 | None | 4.7669E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.5941 | likely_pathogenic | 0.6359 | pathogenic | -0.186 | Destabilizing | 0.999 | D | 0.673 | neutral | D | 0.604949313 | None | None | N |
| D/C | 0.909 | likely_pathogenic | 0.922 | pathogenic | 0.017 | Stabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| D/E | 0.5081 | ambiguous | 0.5531 | ambiguous | -0.266 | Destabilizing | 0.996 | D | 0.411 | neutral | D | 0.580220195 | None | None | N |
| D/F | 0.9538 | likely_pathogenic | 0.9542 | pathogenic | -0.087 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| D/G | 0.4844 | ambiguous | 0.5274 | ambiguous | -0.385 | Destabilizing | 0.996 | D | 0.629 | neutral | D | 0.641370441 | None | None | N |
| D/H | 0.6627 | likely_pathogenic | 0.6875 | pathogenic | 0.13 | Stabilizing | 1.0 | D | 0.705 | prob.neutral | D | 0.606891685 | None | None | N |
| D/I | 0.9029 | likely_pathogenic | 0.8994 | pathogenic | 0.287 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| D/K | 0.8385 | likely_pathogenic | 0.8403 | pathogenic | 0.393 | Stabilizing | 0.999 | D | 0.712 | prob.delet. | None | None | None | None | N |
| D/L | 0.8886 | likely_pathogenic | 0.894 | pathogenic | 0.287 | Stabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| D/M | 0.9563 | likely_pathogenic | 0.9611 | pathogenic | 0.331 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| D/N | 0.1574 | likely_benign | 0.1736 | benign | 0.038 | Stabilizing | 0.884 | D | 0.337 | neutral | N | 0.439343365 | None | None | N |
| D/P | 0.7676 | likely_pathogenic | 0.8123 | pathogenic | 0.152 | Stabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| D/Q | 0.8196 | likely_pathogenic | 0.8412 | pathogenic | 0.083 | Stabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| D/R | 0.8771 | likely_pathogenic | 0.88 | pathogenic | 0.575 | Stabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| D/S | 0.3157 | likely_benign | 0.3656 | ambiguous | -0.057 | Destabilizing | 0.997 | D | 0.552 | neutral | None | None | None | None | N |
| D/T | 0.6839 | likely_pathogenic | 0.7155 | pathogenic | 0.103 | Stabilizing | 0.999 | D | 0.716 | prob.delet. | None | None | None | None | N |
| D/V | 0.783 | likely_pathogenic | 0.7723 | pathogenic | 0.152 | Stabilizing | 1.0 | D | 0.743 | deleterious | D | 0.643442732 | None | None | N |
| D/W | 0.986 | likely_pathogenic | 0.9858 | pathogenic | 0.043 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| D/Y | 0.6771 | likely_pathogenic | 0.6586 | pathogenic | 0.156 | Stabilizing | 1.0 | D | 0.743 | deleterious | D | 0.606891685 | 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.