Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2185 | 6778;6779;6780 | chr2:178775158;178775157;178775156 | chr2:179639885;179639884;179639883 |
| N2AB | 2185 | 6778;6779;6780 | chr2:178775158;178775157;178775156 | chr2:179639885;179639884;179639883 |
| N2A | 2185 | 6778;6779;6780 | chr2:178775158;178775157;178775156 | chr2:179639885;179639884;179639883 |
| N2B | 2139 | 6640;6641;6642 | chr2:178775158;178775157;178775156 | chr2:179639885;179639884;179639883 |
| Novex-1 | 2139 | 6640;6641;6642 | chr2:178775158;178775157;178775156 | chr2:179639885;179639884;179639883 |
| Novex-2 | 2139 | 6640;6641;6642 | chr2:178775158;178775157;178775156 | chr2:179639885;179639884;179639883 |
| Novex-3 | 2185 | 6778;6779;6780 | chr2:178775158;178775157;178775156 | chr2:179639885;179639884;179639883 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs367653049  |
-1.049 | 1.0 | D | 0.745 | 0.772 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/P | rs367653049 |
-1.049 | 1.0 | D | 0.745 | 0.772 | None | gnomAD-4.0.0 | 6.57462E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46998E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6147 | likely_pathogenic | 0.6234 | pathogenic | -0.932 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| A/D | 0.9567 | likely_pathogenic | 0.9612 | pathogenic | -1.711 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | D | 0.697308112 | None | None | N |
| A/E | 0.91 | likely_pathogenic | 0.9201 | pathogenic | -1.713 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| A/F | 0.8404 | likely_pathogenic | 0.85 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| A/G | 0.3235 | likely_benign | 0.329 | benign | -1.349 | Destabilizing | 0.999 | D | 0.54 | neutral | D | 0.594125917 | None | None | N |
| A/H | 0.953 | likely_pathogenic | 0.9565 | pathogenic | -1.603 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| A/I | 0.573 | likely_pathogenic | 0.59 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| A/K | 0.9603 | likely_pathogenic | 0.965 | pathogenic | -1.567 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| A/L | 0.5153 | ambiguous | 0.533 | ambiguous | -0.422 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| A/M | 0.6497 | likely_pathogenic | 0.6615 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| A/N | 0.9059 | likely_pathogenic | 0.9153 | pathogenic | -1.306 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| A/P | 0.975 | likely_pathogenic | 0.9765 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.69656033 | None | None | N |
| A/Q | 0.8807 | likely_pathogenic | 0.8944 | pathogenic | -1.436 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| A/R | 0.9188 | likely_pathogenic | 0.9259 | pathogenic | -1.182 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| A/S | 0.214 | likely_benign | 0.2215 | benign | -1.601 | Destabilizing | 0.999 | D | 0.575 | neutral | D | 0.568586227 | None | None | N |
| A/T | 0.2191 | likely_benign | 0.2314 | benign | -1.521 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | N | 0.512700378 | None | None | N |
| A/V | 0.2601 | likely_benign | 0.2724 | benign | -0.595 | Destabilizing | 0.999 | D | 0.639 | neutral | N | 0.486237427 | None | None | N |
| A/W | 0.9841 | likely_pathogenic | 0.9847 | pathogenic | -1.467 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| A/Y | 0.9387 | likely_pathogenic | 0.9436 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | 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.