Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18621 | 56086;56087;56088 | chr2:178601043;178601042;178601041 | chr2:179465770;179465769;179465768 |
| N2AB | 16980 | 51163;51164;51165 | chr2:178601043;178601042;178601041 | chr2:179465770;179465769;179465768 |
| N2A | 16053 | 48382;48383;48384 | chr2:178601043;178601042;178601041 | chr2:179465770;179465769;179465768 |
| N2B | 9556 | 28891;28892;28893 | chr2:178601043;178601042;178601041 | chr2:179465770;179465769;179465768 |
| Novex-1 | 9681 | 29266;29267;29268 | chr2:178601043;178601042;178601041 | chr2:179465770;179465769;179465768 |
| Novex-2 | 9748 | 29467;29468;29469 | chr2:178601043;178601042;178601041 | chr2:179465770;179465769;179465768 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs969457022  |
-0.743 | 1.0 | N | 0.833 | 0.539 | 0.552900881131 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| W/R | rs969457022 |
-0.743 | 1.0 | N | 0.833 | 0.539 | 0.552900881131 | gnomAD-4.0.0 | 3.1859E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.55741E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.8306 | likely_pathogenic | 0.7296 | pathogenic | -3.415 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| W/C | 0.9347 | likely_pathogenic | 0.8818 | pathogenic | -1.814 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.517788155 | None | None | N |
| W/D | 0.9579 | likely_pathogenic | 0.931 | pathogenic | -2.363 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/E | 0.9418 | likely_pathogenic | 0.8985 | pathogenic | -2.307 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| W/F | 0.3948 | ambiguous | 0.3765 | ambiguous | -2.196 | Highly Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| W/G | 0.7291 | likely_pathogenic | 0.6057 | pathogenic | -3.624 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.508456596 | None | None | N |
| W/H | 0.843 | likely_pathogenic | 0.8013 | pathogenic | -2.025 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| W/I | 0.8149 | likely_pathogenic | 0.7267 | pathogenic | -2.646 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| W/K | 0.907 | likely_pathogenic | 0.8639 | pathogenic | -1.926 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| W/L | 0.7084 | likely_pathogenic | 0.6085 | pathogenic | -2.646 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.459721287 | None | None | N |
| W/M | 0.851 | likely_pathogenic | 0.7848 | pathogenic | -2.125 | Highly Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| W/N | 0.9273 | likely_pathogenic | 0.8898 | pathogenic | -2.186 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| W/P | 0.9784 | likely_pathogenic | 0.9648 | pathogenic | -2.922 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| W/Q | 0.9229 | likely_pathogenic | 0.8756 | pathogenic | -2.259 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| W/R | 0.8708 | likely_pathogenic | 0.8111 | pathogenic | -1.212 | Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.514841064 | None | None | N |
| W/S | 0.7372 | likely_pathogenic | 0.6186 | pathogenic | -2.643 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.469204775 | None | None | N |
| W/T | 0.8107 | likely_pathogenic | 0.7056 | pathogenic | -2.527 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| W/V | 0.7704 | likely_pathogenic | 0.6624 | pathogenic | -2.922 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| W/Y | 0.6095 | likely_pathogenic | 0.5847 | pathogenic | -2.029 | Highly Destabilizing | 1.0 | D | 0.701 | 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.