Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32276 | 97051;97052;97053 | chr2:178543147;178543146;178543145 | chr2:179407874;179407873;179407872 |
| N2AB | 30635 | 92128;92129;92130 | chr2:178543147;178543146;178543145 | chr2:179407874;179407873;179407872 |
| N2A | 29708 | 89347;89348;89349 | chr2:178543147;178543146;178543145 | chr2:179407874;179407873;179407872 |
| N2B | 23211 | 69856;69857;69858 | chr2:178543147;178543146;178543145 | chr2:179407874;179407873;179407872 |
| Novex-1 | 23336 | 70231;70232;70233 | chr2:178543147;178543146;178543145 | chr2:179407874;179407873;179407872 |
| Novex-2 | 23403 | 70432;70433;70434 | chr2:178543147;178543146;178543145 | chr2:179407874;179407873;179407872 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | None | None | 1.0 | D | 0.73 | 0.631 | 0.765547108691 | gnomAD-4.0.0 | 1.59311E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43303E-05 | 0 |
| R/T | None | None | 1.0 | N | 0.728 | 0.517 | 0.742236463733 | gnomAD-4.0.0 | 6.84599E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00043E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9284 | likely_pathogenic | 0.9309 | pathogenic | -1.94 | Destabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | N |
| R/C | 0.4144 | ambiguous | 0.3724 | ambiguous | -1.759 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| R/D | 0.9947 | likely_pathogenic | 0.9948 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| R/E | 0.93 | likely_pathogenic | 0.9308 | pathogenic | -0.946 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| R/F | 0.9739 | likely_pathogenic | 0.9685 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| R/G | 0.8999 | likely_pathogenic | 0.9032 | pathogenic | -2.23 | Highly Destabilizing | 1.0 | D | 0.73 | prob.delet. | D | 0.544438277 | None | None | N |
| R/H | 0.3762 | ambiguous | 0.3432 | ambiguous | -2.251 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| R/I | 0.8753 | likely_pathogenic | 0.8691 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.83 | deleterious | N | 0.510204776 | None | None | N |
| R/K | 0.4907 | ambiguous | 0.4702 | ambiguous | -1.324 | Destabilizing | 0.997 | D | 0.635 | neutral | N | 0.494085076 | None | None | N |
| R/L | 0.8401 | likely_pathogenic | 0.8271 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| R/M | 0.9018 | likely_pathogenic | 0.8961 | pathogenic | -1.635 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| R/N | 0.9772 | likely_pathogenic | 0.9757 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| R/P | 0.9981 | likely_pathogenic | 0.9983 | pathogenic | -1.365 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| R/Q | 0.2525 | likely_benign | 0.2439 | benign | -1.093 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| R/S | 0.9419 | likely_pathogenic | 0.9415 | pathogenic | -2.052 | Highly Destabilizing | 1.0 | D | 0.728 | prob.delet. | N | 0.499009374 | None | None | N |
| R/T | 0.9093 | likely_pathogenic | 0.9105 | pathogenic | -1.669 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | N | 0.488248953 | None | None | N |
| R/V | 0.8934 | likely_pathogenic | 0.8866 | pathogenic | -1.365 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| R/W | 0.7277 | likely_pathogenic | 0.7104 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| R/Y | 0.9259 | likely_pathogenic | 0.9151 | pathogenic | -0.626 | Destabilizing | 1.0 | D | 0.835 | 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.