Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32687 | 98284;98285;98286 | chr2:178540107;178540106;178540105 | chr2:179404834;179404833;179404832 |
| N2AB | 31046 | 93361;93362;93363 | chr2:178540107;178540106;178540105 | chr2:179404834;179404833;179404832 |
| N2A | 30119 | 90580;90581;90582 | chr2:178540107;178540106;178540105 | chr2:179404834;179404833;179404832 |
| N2B | 23622 | 71089;71090;71091 | chr2:178540107;178540106;178540105 | chr2:179404834;179404833;179404832 |
| Novex-1 | 23747 | 71464;71465;71466 | chr2:178540107;178540106;178540105 | chr2:179404834;179404833;179404832 |
| Novex-2 | 23814 | 71665;71666;71667 | chr2:178540107;178540106;178540105 | chr2:179404834;179404833;179404832 |
| 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 | rs2154140466  |
None | 1.0 | N | 0.628 | 0.303 | 0.117506650769 | gnomAD-4.0.0 | 1.60337E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88635E-06 | 0 | 0 |
| A/V | None | None | 1.0 | N | 0.669 | 0.374 | 0.38225645794 | gnomAD-4.0.0 | 2.05903E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70652E-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 | 0.4328 | ambiguous | 0.3774 | ambiguous | -1.179 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| A/D | 0.559 | ambiguous | 0.5597 | ambiguous | -2.386 | Highly Destabilizing | 1.0 | D | 0.782 | deleterious | N | 0.494709598 | None | None | N |
| A/E | 0.4552 | ambiguous | 0.4795 | ambiguous | -2.323 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| A/F | 0.5645 | likely_pathogenic | 0.5525 | ambiguous | -1.083 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/G | 0.1908 | likely_benign | 0.1664 | benign | -1.692 | Destabilizing | 1.0 | D | 0.635 | neutral | N | 0.51657186 | None | None | N |
| A/H | 0.7301 | likely_pathogenic | 0.7203 | pathogenic | -1.989 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/I | 0.3998 | ambiguous | 0.3982 | ambiguous | -0.493 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| A/K | 0.7579 | likely_pathogenic | 0.7695 | pathogenic | -1.739 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| A/L | 0.3666 | ambiguous | 0.3457 | ambiguous | -0.493 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| A/M | 0.3466 | ambiguous | 0.3421 | ambiguous | -0.423 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/N | 0.5441 | ambiguous | 0.5166 | ambiguous | -1.635 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/P | 0.9484 | likely_pathogenic | 0.9483 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.494709598 | None | None | N |
| A/Q | 0.5367 | ambiguous | 0.5348 | ambiguous | -1.682 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/R | 0.6497 | likely_pathogenic | 0.6652 | pathogenic | -1.443 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| A/S | 0.11 | likely_benign | 0.1038 | benign | -1.947 | Destabilizing | 1.0 | D | 0.628 | neutral | N | 0.419031378 | None | None | N |
| A/T | 0.1253 | likely_benign | 0.1186 | benign | -1.802 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.465423167 | None | None | N |
| A/V | 0.1804 | likely_benign | 0.1794 | benign | -0.738 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.503181275 | None | None | N |
| A/W | 0.8797 | likely_pathogenic | 0.8689 | pathogenic | -1.649 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/Y | 0.7254 | likely_pathogenic | 0.7142 | pathogenic | -1.242 | Destabilizing | 1.0 | D | 0.847 | 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.