Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14425 | 43498;43499;43500 | chr2:178632733;178632732;178632731 | chr2:179497460;179497459;179497458 |
| N2AB | 12784 | 38575;38576;38577 | chr2:178632733;178632732;178632731 | chr2:179497460;179497459;179497458 |
| N2A | 11857 | 35794;35795;35796 | chr2:178632733;178632732;178632731 | chr2:179497460;179497459;179497458 |
| N2B | 5360 | 16303;16304;16305 | chr2:178632733;178632732;178632731 | chr2:179497460;179497459;179497458 |
| Novex-1 | 5485 | 16678;16679;16680 | chr2:178632733;178632732;178632731 | chr2:179497460;179497459;179497458 |
| Novex-2 | 5552 | 16879;16880;16881 | chr2:178632733;178632732;178632731 | chr2:179497460;179497459;179497458 |
| 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/S | None | None | 0.996 | D | 0.55 | 0.537 | 0.550418665841 | gnomAD-4.0.0 | 1.59237E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85992E-06 | 0 | 0 |
| A/T | None | None | 0.999 | D | 0.73 | 0.532 | 0.558070701127 | gnomAD-4.0.0 | 1.59237E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85992E-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 | 0.8817 | likely_pathogenic | 0.8496 | pathogenic | -0.677 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| A/D | 0.9857 | likely_pathogenic | 0.9852 | pathogenic | -1.432 | Destabilizing | 0.999 | D | 0.839 | deleterious | D | 0.714111544 | None | None | N |
| A/E | 0.9702 | likely_pathogenic | 0.9706 | pathogenic | -1.276 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/F | 0.9319 | likely_pathogenic | 0.9262 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/G | 0.3426 | ambiguous | 0.3262 | benign | -1.139 | Destabilizing | 0.434 | N | 0.327 | neutral | D | 0.585416968 | None | None | N |
| A/H | 0.9939 | likely_pathogenic | 0.9933 | pathogenic | -1.543 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/I | 0.7014 | likely_pathogenic | 0.6785 | pathogenic | 0.475 | Stabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| A/K | 0.9925 | likely_pathogenic | 0.9924 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/L | 0.6995 | likely_pathogenic | 0.6809 | pathogenic | 0.475 | Stabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| A/M | 0.7971 | likely_pathogenic | 0.7729 | pathogenic | 0.287 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/N | 0.9747 | likely_pathogenic | 0.9725 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/P | 0.9761 | likely_pathogenic | 0.975 | pathogenic | 0.133 | Stabilizing | 1.0 | D | 0.852 | deleterious | D | 0.714034754 | None | None | N |
| A/Q | 0.9758 | likely_pathogenic | 0.9745 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/R | 0.982 | likely_pathogenic | 0.9818 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| A/S | 0.4531 | ambiguous | 0.4314 | ambiguous | -1.498 | Destabilizing | 0.996 | D | 0.55 | neutral | D | 0.71429602 | None | None | N |
| A/T | 0.4666 | ambiguous | 0.4166 | ambiguous | -1.204 | Destabilizing | 0.999 | D | 0.73 | prob.delet. | D | 0.626604485 | None | None | N |
| A/V | 0.361 | ambiguous | 0.3416 | ambiguous | 0.133 | Stabilizing | 0.999 | D | 0.645 | neutral | D | 0.531833934 | None | None | N |
| A/W | 0.9964 | likely_pathogenic | 0.9961 | pathogenic | -1.195 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| A/Y | 0.9822 | likely_pathogenic | 0.9809 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.861 | 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.