Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25440 | 76543;76544;76545 | chr2:178569814;178569813;178569812 | chr2:179434541;179434540;179434539 |
| N2AB | 23799 | 71620;71621;71622 | chr2:178569814;178569813;178569812 | chr2:179434541;179434540;179434539 |
| N2A | 22872 | 68839;68840;68841 | chr2:178569814;178569813;178569812 | chr2:179434541;179434540;179434539 |
| N2B | 16375 | 49348;49349;49350 | chr2:178569814;178569813;178569812 | chr2:179434541;179434540;179434539 |
| Novex-1 | 16500 | 49723;49724;49725 | chr2:178569814;178569813;178569812 | chr2:179434541;179434540;179434539 |
| Novex-2 | 16567 | 49924;49925;49926 | chr2:178569814;178569813;178569812 | chr2:179434541;179434540;179434539 |
| 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/H | rs1387581169  |
-2.616 | 1.0 | D | 0.823 | 0.852 | 0.744860964332 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| Y/H | rs1387581169 |
-2.616 | 1.0 | D | 0.823 | 0.852 | 0.744860964332 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93648E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | rs1387581169 |
-2.616 | 1.0 | D | 0.823 | 0.852 | 0.744860964332 | gnomAD-4.0.0 | 2.56341E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.85508E-05 | None | 0 | 0 | 0 | 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 | 0.9969 | likely_pathogenic | 0.997 | pathogenic | -3.472 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| Y/C | 0.9104 | likely_pathogenic | 0.9095 | pathogenic | -1.938 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.640213242 | None | None | N |
| Y/D | 0.9961 | likely_pathogenic | 0.9961 | pathogenic | -3.854 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.640415046 | None | None | N |
| Y/E | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -3.641 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| Y/F | 0.2509 | likely_benign | 0.254 | benign | -1.339 | Destabilizing | 0.999 | D | 0.674 | neutral | N | 0.502037336 | None | None | N |
| Y/G | 0.9918 | likely_pathogenic | 0.9918 | pathogenic | -3.876 | Highly Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| Y/H | 0.9741 | likely_pathogenic | 0.9768 | pathogenic | -2.538 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.623992077 | None | None | N |
| Y/I | 0.9733 | likely_pathogenic | 0.9707 | pathogenic | -2.099 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| Y/K | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -2.441 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| Y/L | 0.9553 | likely_pathogenic | 0.9553 | pathogenic | -2.099 | Highly Destabilizing | 0.999 | D | 0.739 | prob.delet. | None | None | None | None | N |
| Y/M | 0.9829 | likely_pathogenic | 0.9827 | pathogenic | -1.822 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| Y/N | 0.9692 | likely_pathogenic | 0.9703 | pathogenic | -3.238 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.640415046 | None | None | N |
| Y/P | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.576 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| Y/Q | 0.9982 | likely_pathogenic | 0.9983 | pathogenic | -2.984 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| Y/R | 0.9944 | likely_pathogenic | 0.9949 | pathogenic | -2.2 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| Y/S | 0.9857 | likely_pathogenic | 0.9866 | pathogenic | -3.541 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.640415046 | None | None | N |
| Y/T | 0.9955 | likely_pathogenic | 0.9957 | pathogenic | -3.211 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| Y/V | 0.9567 | likely_pathogenic | 0.9548 | pathogenic | -2.576 | Highly Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| Y/W | 0.8359 | likely_pathogenic | 0.8268 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.805 | 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.