Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26727 | 80404;80405;80406 | chr2:178565953;178565952;178565951 | chr2:179430680;179430679;179430678 |
| N2AB | 25086 | 75481;75482;75483 | chr2:178565953;178565952;178565951 | chr2:179430680;179430679;179430678 |
| N2A | 24159 | 72700;72701;72702 | chr2:178565953;178565952;178565951 | chr2:179430680;179430679;179430678 |
| N2B | 17662 | 53209;53210;53211 | chr2:178565953;178565952;178565951 | chr2:179430680;179430679;179430678 |
| Novex-1 | 17787 | 53584;53585;53586 | chr2:178565953;178565952;178565951 | chr2:179430680;179430679;179430678 |
| Novex-2 | 17854 | 53785;53786;53787 | chr2:178565953;178565952;178565951 | chr2:179430680;179430679;179430678 |
| 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/S | rs769497982  |
-0.564 | 1.0 | N | 0.607 | 0.364 | 0.275215494804 | gnomAD-2.1.1 | 3.57E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 3.59712E-04 | 7.83E-06 | 0 |
| R/S | rs769497982 |
-0.564 | 1.0 | N | 0.607 | 0.364 | 0.275215494804 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 2.8222E-04 | 0 | 1.47E-05 | 0 | 0 |
| R/S | rs769497982 |
-0.564 | 1.0 | N | 0.607 | 0.364 | 0.275215494804 | gnomAD-4.0.0 | 3.58777E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.92132E-04 | 0 | 7.18095E-06 | 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 | 0.9765 | likely_pathogenic | 0.9787 | pathogenic | -0.41 | Destabilizing | 0.999 | D | 0.473 | neutral | None | None | None | None | N |
| R/C | 0.7905 | likely_pathogenic | 0.8189 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| R/D | 0.9961 | likely_pathogenic | 0.9965 | pathogenic | -0.005 | Destabilizing | 1.0 | D | 0.642 | neutral | None | None | None | None | N |
| R/E | 0.9725 | likely_pathogenic | 0.9754 | pathogenic | 0.073 | Stabilizing | 0.996 | D | 0.513 | neutral | None | None | None | None | N |
| R/F | 0.981 | likely_pathogenic | 0.981 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| R/G | 0.9242 | likely_pathogenic | 0.9352 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.545 | neutral | N | 0.509723246 | None | None | N |
| R/H | 0.6172 | likely_pathogenic | 0.6394 | pathogenic | -1.039 | Destabilizing | 0.999 | D | 0.684 | prob.neutral | None | None | None | None | N |
| R/I | 0.9692 | likely_pathogenic | 0.9719 | pathogenic | 0.217 | Stabilizing | 0.999 | D | 0.719 | prob.delet. | N | 0.515655144 | None | None | N |
| R/K | 0.4343 | ambiguous | 0.4658 | ambiguous | -0.421 | Destabilizing | 0.971 | D | 0.407 | neutral | N | 0.461566726 | None | None | N |
| R/L | 0.9075 | likely_pathogenic | 0.9082 | pathogenic | 0.217 | Stabilizing | 0.999 | D | 0.545 | neutral | None | None | None | None | N |
| R/M | 0.9344 | likely_pathogenic | 0.9378 | pathogenic | -0.055 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| R/N | 0.9903 | likely_pathogenic | 0.9911 | pathogenic | 0.09 | Stabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| R/P | 0.9964 | likely_pathogenic | 0.9969 | pathogenic | 0.029 | Stabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | N |
| R/Q | 0.5679 | likely_pathogenic | 0.6092 | pathogenic | -0.124 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| R/S | 0.9854 | likely_pathogenic | 0.9871 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.607 | neutral | N | 0.458449063 | None | None | N |
| R/T | 0.9756 | likely_pathogenic | 0.9796 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.609 | neutral | N | 0.494332506 | None | None | N |
| R/V | 0.9717 | likely_pathogenic | 0.9736 | pathogenic | 0.029 | Stabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| R/W | 0.7725 | likely_pathogenic | 0.7905 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| R/Y | 0.9479 | likely_pathogenic | 0.952 | pathogenic | 0.028 | Stabilizing | 0.999 | D | 0.682 | 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.