Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26061 | 78406;78407;78408 | chr2:178567951;178567950;178567949 | chr2:179432678;179432677;179432676 |
| N2AB | 24420 | 73483;73484;73485 | chr2:178567951;178567950;178567949 | chr2:179432678;179432677;179432676 |
| N2A | 23493 | 70702;70703;70704 | chr2:178567951;178567950;178567949 | chr2:179432678;179432677;179432676 |
| N2B | 16996 | 51211;51212;51213 | chr2:178567951;178567950;178567949 | chr2:179432678;179432677;179432676 |
| Novex-1 | 17121 | 51586;51587;51588 | chr2:178567951;178567950;178567949 | chr2:179432678;179432677;179432676 |
| Novex-2 | 17188 | 51787;51788;51789 | chr2:178567951;178567950;178567949 | chr2:179432678;179432677;179432676 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | None | None | 1.0 | D | 0.901 | 0.918 | 0.908780926406 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 0 | 0 |
| Y/N | None | None | 1.0 | D | 0.903 | 0.875 | 0.935362106277 | gnomAD-4.0.0 | 8.40225E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.18751E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9944 | likely_pathogenic | 0.9954 | pathogenic | -3.337 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| Y/C | 0.9177 | likely_pathogenic | 0.928 | pathogenic | -1.915 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.668989096 | None | None | N |
| Y/D | 0.9936 | likely_pathogenic | 0.9943 | pathogenic | -3.775 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.685008456 | None | None | N |
| Y/E | 0.9979 | likely_pathogenic | 0.9981 | pathogenic | -3.582 | Highly Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| Y/F | 0.3995 | ambiguous | 0.4221 | ambiguous | -1.301 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | D | 0.641634745 | None | None | N |
| Y/G | 0.9854 | likely_pathogenic | 0.9871 | pathogenic | -3.724 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| Y/H | 0.9749 | likely_pathogenic | 0.976 | pathogenic | -2.274 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.668989096 | None | None | N |
| Y/I | 0.9752 | likely_pathogenic | 0.9797 | pathogenic | -2.03 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| Y/K | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -2.46 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| Y/L | 0.9554 | likely_pathogenic | 0.9602 | pathogenic | -2.03 | Highly Destabilizing | 0.999 | D | 0.822 | deleterious | None | None | None | None | N |
| Y/M | 0.9793 | likely_pathogenic | 0.982 | pathogenic | -1.679 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| Y/N | 0.9504 | likely_pathogenic | 0.9571 | pathogenic | -3.227 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.684806652 | None | None | N |
| Y/P | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -2.483 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| Y/Q | 0.9976 | likely_pathogenic | 0.9978 | pathogenic | -3.018 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| Y/R | 0.9956 | likely_pathogenic | 0.9959 | pathogenic | -2.124 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| Y/S | 0.9819 | likely_pathogenic | 0.9845 | pathogenic | -3.531 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.685008456 | None | None | N |
| Y/T | 0.9912 | likely_pathogenic | 0.9924 | pathogenic | -3.231 | Highly Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| Y/V | 0.9454 | likely_pathogenic | 0.9515 | pathogenic | -2.483 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| Y/W | 0.8539 | likely_pathogenic | 0.8702 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.794 | 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.