Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15522 | 46789;46790;46791 | chr2:178619753;178619752;178619751 | chr2:179484480;179484479;179484478 |
| N2AB | 13881 | 41866;41867;41868 | chr2:178619753;178619752;178619751 | chr2:179484480;179484479;179484478 |
| N2A | 12954 | 39085;39086;39087 | chr2:178619753;178619752;178619751 | chr2:179484480;179484479;179484478 |
| N2B | 6457 | 19594;19595;19596 | chr2:178619753;178619752;178619751 | chr2:179484480;179484479;179484478 |
| Novex-1 | 6582 | 19969;19970;19971 | chr2:178619753;178619752;178619751 | chr2:179484480;179484479;179484478 |
| Novex-2 | 6649 | 20170;20171;20172 | chr2:178619753;178619752;178619751 | chr2:179484480;179484479;179484478 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs750435043  |
-0.209 | 1.0 | D | 0.766 | 0.476 | 0.639656643812 | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.13E-05 | 0 |
| G/R | rs750435043 |
-0.209 | 1.0 | D | 0.766 | 0.476 | 0.639656643812 | gnomAD-3.1.2 | 2.64E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.42E-05 | 0 | 0 |
| G/R | rs750435043 |
-0.209 | 1.0 | D | 0.766 | 0.476 | 0.639656643812 | gnomAD-4.0.0 | 8.12541E-05 | None | None | None | None | N | None | 1.33797E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.09422E-04 | 0 | 1.60292E-05 |
| G/V | rs1246339782 |
None | 1.0 | D | 0.778 | 0.517 | 0.643109767165 | gnomAD-4.0.0 | 1.59392E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43365E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5054 | ambiguous | 0.4101 | ambiguous | -0.423 | Destabilizing | 0.998 | D | 0.479 | neutral | D | 0.538691185 | None | None | N |
| G/C | 0.742 | likely_pathogenic | 0.6864 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.778 | deleterious | D | 0.586764133 | None | None | N |
| G/D | 0.6668 | likely_pathogenic | 0.6056 | pathogenic | -1.01 | Destabilizing | 1.0 | D | 0.64 | neutral | N | 0.500856572 | None | None | N |
| G/E | 0.8307 | likely_pathogenic | 0.7926 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| G/F | 0.9702 | likely_pathogenic | 0.9618 | pathogenic | -1.156 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/H | 0.9067 | likely_pathogenic | 0.8582 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/I | 0.9484 | likely_pathogenic | 0.9264 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| G/K | 0.927 | likely_pathogenic | 0.9022 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| G/L | 0.9325 | likely_pathogenic | 0.904 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/M | 0.9348 | likely_pathogenic | 0.9168 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| G/N | 0.6442 | likely_pathogenic | 0.5821 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| G/P | 0.9908 | likely_pathogenic | 0.9833 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| G/Q | 0.8814 | likely_pathogenic | 0.8433 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| G/R | 0.8926 | likely_pathogenic | 0.9044 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.766 | deleterious | D | 0.583156191 | None | None | N |
| G/S | 0.2703 | likely_benign | 0.1961 | benign | -0.719 | Destabilizing | 0.991 | D | 0.547 | neutral | N | 0.492404321 | None | None | N |
| G/T | 0.5769 | likely_pathogenic | 0.4514 | ambiguous | -0.828 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| G/V | 0.8664 | likely_pathogenic | 0.8211 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.778 | deleterious | D | 0.585257024 | None | None | N |
| G/W | 0.9155 | likely_pathogenic | 0.8824 | pathogenic | -1.316 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| G/Y | 0.9397 | likely_pathogenic | 0.9208 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.787 | 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.