Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7118 | 21577;21578;21579 | chr2:178723907;178723906;178723905 | chr2:179588634;179588633;179588632 |
| N2AB | 6801 | 20626;20627;20628 | chr2:178723907;178723906;178723905 | chr2:179588634;179588633;179588632 |
| N2A | 5874 | 17845;17846;17847 | chr2:178723907;178723906;178723905 | chr2:179588634;179588633;179588632 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs2078883928  |
None | 1.0 | D | 0.788 | 0.579 | 0.680623934228 | 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/T | rs2078883928 |
None | 1.0 | D | 0.788 | 0.579 | 0.680623934228 | gnomAD-4.0.0 | 6.57168E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4702E-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 | 0.9281 | likely_pathogenic | 0.9182 | pathogenic | -1.584 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/D | 0.9976 | likely_pathogenic | 0.9967 | pathogenic | -2.677 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.664538733 | None | None | N |
| A/E | 0.994 | likely_pathogenic | 0.9923 | pathogenic | -2.533 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| A/F | 0.9545 | likely_pathogenic | 0.934 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| A/G | 0.5786 | likely_pathogenic | 0.5316 | ambiguous | -1.802 | Destabilizing | 1.0 | D | 0.559 | neutral | D | 0.638597013 | None | None | N |
| A/H | 0.9974 | likely_pathogenic | 0.9964 | pathogenic | -2.034 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| A/I | 0.7637 | likely_pathogenic | 0.7358 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| A/K | 0.9986 | likely_pathogenic | 0.9981 | pathogenic | -1.547 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/L | 0.7036 | likely_pathogenic | 0.6346 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| A/M | 0.8559 | likely_pathogenic | 0.8216 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/N | 0.9949 | likely_pathogenic | 0.9933 | pathogenic | -1.756 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| A/P | 0.9894 | likely_pathogenic | 0.9855 | pathogenic | -0.616 | Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.648317568 | None | None | N |
| A/Q | 0.9919 | likely_pathogenic | 0.9898 | pathogenic | -1.678 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| A/R | 0.9933 | likely_pathogenic | 0.9916 | pathogenic | -1.439 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| A/S | 0.5229 | ambiguous | 0.4981 | ambiguous | -2.142 | Highly Destabilizing | 1.0 | D | 0.556 | neutral | D | 0.610535451 | None | None | N |
| A/T | 0.6267 | likely_pathogenic | 0.583 | pathogenic | -1.889 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.638193405 | None | None | N |
| A/V | 0.3923 | ambiguous | 0.3727 | ambiguous | -0.616 | Destabilizing | 1.0 | D | 0.639 | neutral | N | 0.50564496 | None | None | N |
| A/W | 0.9983 | likely_pathogenic | 0.9974 | pathogenic | -1.649 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/Y | 0.9936 | likely_pathogenic | 0.9903 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.899 | 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.