Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26067 | 78424;78425;78426 | chr2:178567933;178567932;178567931 | chr2:179432660;179432659;179432658 |
| N2AB | 24426 | 73501;73502;73503 | chr2:178567933;178567932;178567931 | chr2:179432660;179432659;179432658 |
| N2A | 23499 | 70720;70721;70722 | chr2:178567933;178567932;178567931 | chr2:179432660;179432659;179432658 |
| N2B | 17002 | 51229;51230;51231 | chr2:178567933;178567932;178567931 | chr2:179432660;179432659;179432658 |
| Novex-1 | 17127 | 51604;51605;51606 | chr2:178567933;178567932;178567931 | chr2:179432660;179432659;179432658 |
| Novex-2 | 17194 | 51805;51806;51807 | chr2:178567933;178567932;178567931 | chr2:179432660;179432659;179432658 |
| 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/D | None | None | 1.0 | D | 0.855 | 0.816 | 0.844566175424 | gnomAD-4.0.0 | 1.59173E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85936E-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 | 0.8835 | likely_pathogenic | 0.8574 | pathogenic | -1.738 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/D | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -2.673 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.656614775 | None | None | N |
| A/E | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -2.454 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/F | 0.9974 | likely_pathogenic | 0.9978 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| A/G | 0.6355 | likely_pathogenic | 0.6397 | pathogenic | -2.306 | Highly Destabilizing | 1.0 | D | 0.621 | neutral | D | 0.595334025 | None | None | N |
| A/H | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -2.06 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/I | 0.9925 | likely_pathogenic | 0.9901 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/K | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.444 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/L | 0.9722 | likely_pathogenic | 0.9699 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/M | 0.9868 | likely_pathogenic | 0.9856 | pathogenic | -1.332 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| A/N | 0.9976 | likely_pathogenic | 0.9975 | pathogenic | -1.849 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| A/P | 0.9912 | likely_pathogenic | 0.9941 | pathogenic | -1.158 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.623738475 | None | None | N |
| A/Q | 0.9952 | likely_pathogenic | 0.9956 | pathogenic | -1.569 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| A/R | 0.9966 | likely_pathogenic | 0.9971 | pathogenic | -1.514 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/S | 0.4634 | ambiguous | 0.4462 | ambiguous | -2.193 | Highly Destabilizing | 1.0 | D | 0.61 | neutral | D | 0.612605291 | None | None | N |
| A/T | 0.8941 | likely_pathogenic | 0.8551 | pathogenic | -1.88 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.630067642 | None | None | N |
| A/V | 0.9445 | likely_pathogenic | 0.924 | pathogenic | -1.158 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | D | 0.629462229 | None | None | N |
| A/W | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.248 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| A/Y | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.896 | 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.