Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15591 | 46996;46997;46998 | chr2:178618779;178618778;178618777 | chr2:179483506;179483505;179483504 |
| N2AB | 13950 | 42073;42074;42075 | chr2:178618779;178618778;178618777 | chr2:179483506;179483505;179483504 |
| N2A | 13023 | 39292;39293;39294 | chr2:178618779;178618778;178618777 | chr2:179483506;179483505;179483504 |
| N2B | 6526 | 19801;19802;19803 | chr2:178618779;178618778;178618777 | chr2:179483506;179483505;179483504 |
| Novex-1 | 6651 | 20176;20177;20178 | chr2:178618779;178618778;178618777 | chr2:179483506;179483505;179483504 |
| Novex-2 | 6718 | 20377;20378;20379 | chr2:178618779;178618778;178618777 | chr2:179483506;179483505;179483504 |
| 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 | rs771962876  |
-2.138 | 1.0 | N | 0.865 | 0.553 | 0.683444952736 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.69933E-04 | None | 0 | None | 0 | 0 | 0 |
| Y/C | rs771962876 |
-2.138 | 1.0 | N | 0.865 | 0.553 | 0.683444952736 | gnomAD-4.0.0 | 1.37026E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.53627E-05 | None | 0 | 0 | 9.00189E-07 | 0 | 0 |
| Y/H | rs775496863 |
-2.709 | 1.0 | N | 0.746 | 0.574 | 0.545346552841 | gnomAD-2.1.1 | 3.23E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.82E-05 | None | 0 | 4.73E-05 | 0 |
| Y/H | rs775496863 |
-2.709 | 1.0 | N | 0.746 | 0.574 | 0.545346552841 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.79846E-04 |
| Y/H | rs775496863 |
-2.709 | 1.0 | N | 0.746 | 0.574 | 0.545346552841 | gnomAD-4.0.0 | 1.67538E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 5.11771E-04 | 1.52703E-05 | 3.29714E-05 | 4.81325E-05 |
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 | 0.926 | likely_pathogenic | 0.9567 | pathogenic | -3.79 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| Y/C | 0.3894 | ambiguous | 0.5587 | ambiguous | -2.346 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | N | 0.497868613 | None | None | N |
| Y/D | 0.9825 | likely_pathogenic | 0.9887 | pathogenic | -3.81 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | N | 0.497868613 | None | None | N |
| Y/E | 0.991 | likely_pathogenic | 0.9944 | pathogenic | -3.66 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| Y/F | 0.0874 | likely_benign | 0.1058 | benign | -1.463 | Destabilizing | 0.999 | D | 0.554 | neutral | N | 0.506793723 | None | None | N |
| Y/G | 0.9226 | likely_pathogenic | 0.9521 | pathogenic | -4.141 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| Y/H | 0.7438 | likely_pathogenic | 0.8378 | pathogenic | -2.429 | Highly Destabilizing | 1.0 | D | 0.746 | deleterious | N | 0.497868613 | None | None | N |
| Y/I | 0.8003 | likely_pathogenic | 0.8538 | pathogenic | -2.611 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| Y/K | 0.9867 | likely_pathogenic | 0.9909 | pathogenic | -2.559 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| Y/L | 0.8365 | likely_pathogenic | 0.873 | pathogenic | -2.611 | Highly Destabilizing | 0.999 | D | 0.706 | prob.neutral | None | None | None | None | N |
| Y/M | 0.8981 | likely_pathogenic | 0.9272 | pathogenic | -2.348 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| Y/N | 0.8977 | likely_pathogenic | 0.9348 | pathogenic | -3.109 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.497868613 | None | None | N |
| Y/P | 0.9932 | likely_pathogenic | 0.9955 | pathogenic | -3.018 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| Y/Q | 0.974 | likely_pathogenic | 0.9856 | pathogenic | -3.013 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| Y/R | 0.9535 | likely_pathogenic | 0.9701 | pathogenic | -1.957 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| Y/S | 0.8328 | likely_pathogenic | 0.9028 | pathogenic | -3.489 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | N | 0.497064156 | None | None | N |
| Y/T | 0.9292 | likely_pathogenic | 0.9542 | pathogenic | -3.241 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| Y/V | 0.6809 | likely_pathogenic | 0.7683 | pathogenic | -3.018 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| Y/W | 0.501 | ambiguous | 0.5745 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.765 | 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.