Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32279 | 97060;97061;97062 | chr2:178543138;178543137;178543136 | chr2:179407865;179407864;179407863 |
| N2AB | 30638 | 92137;92138;92139 | chr2:178543138;178543137;178543136 | chr2:179407865;179407864;179407863 |
| N2A | 29711 | 89356;89357;89358 | chr2:178543138;178543137;178543136 | chr2:179407865;179407864;179407863 |
| N2B | 23214 | 69865;69866;69867 | chr2:178543138;178543137;178543136 | chr2:179407865;179407864;179407863 |
| Novex-1 | 23339 | 70240;70241;70242 | chr2:178543138;178543137;178543136 | chr2:179407865;179407864;179407863 |
| Novex-2 | 23406 | 70441;70442;70443 | chr2:178543138;178543137;178543136 | chr2:179407865;179407864;179407863 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | None | None | 1.0 | D | 0.784 | 0.741 | 0.630011229279 | gnomAD-4.0.0 | 3.42415E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.50168E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.637 | likely_pathogenic | 0.6491 | pathogenic | -1.915 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| A/D | 0.9936 | likely_pathogenic | 0.9956 | pathogenic | -2.906 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| A/E | 0.9883 | likely_pathogenic | 0.9913 | pathogenic | -2.675 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.642250927 | None | None | N |
| A/F | 0.9531 | likely_pathogenic | 0.9612 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| A/G | 0.3873 | ambiguous | 0.4026 | ambiguous | -2.441 | Highly Destabilizing | 1.0 | D | 0.631 | neutral | D | 0.603459788 | None | None | N |
| A/H | 0.9906 | likely_pathogenic | 0.9934 | pathogenic | -2.182 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| A/I | 0.8695 | likely_pathogenic | 0.8555 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/K | 0.9971 | likely_pathogenic | 0.9981 | pathogenic | -1.559 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/L | 0.7125 | likely_pathogenic | 0.6948 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/M | 0.871 | likely_pathogenic | 0.8416 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/N | 0.9774 | likely_pathogenic | 0.9807 | pathogenic | -2.033 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/P | 0.9052 | likely_pathogenic | 0.9134 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.600289846 | None | None | N |
| A/Q | 0.975 | likely_pathogenic | 0.9805 | pathogenic | -1.751 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/R | 0.988 | likely_pathogenic | 0.9925 | pathogenic | -1.616 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| A/S | 0.2558 | likely_benign | 0.2608 | benign | -2.381 | Highly Destabilizing | 1.0 | D | 0.615 | neutral | D | 0.58265605 | None | None | N |
| A/T | 0.5871 | likely_pathogenic | 0.4546 | ambiguous | -2.046 | Highly Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.625424349 | None | None | N |
| A/V | 0.5675 | likely_pathogenic | 0.5362 | ambiguous | -1.226 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | D | 0.624818936 | None | None | N |
| A/W | 0.9941 | likely_pathogenic | 0.9964 | pathogenic | -1.397 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/Y | 0.9807 | likely_pathogenic | 0.9869 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.875 | 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.