Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3250 | 9973;9974;9975 | chr2:178764767;178764766;178764765 | chr2:179629494;179629493;179629492 |
| N2AB | 3250 | 9973;9974;9975 | chr2:178764767;178764766;178764765 | chr2:179629494;179629493;179629492 |
| N2A | 3250 | 9973;9974;9975 | chr2:178764767;178764766;178764765 | chr2:179629494;179629493;179629492 |
| N2B | 3204 | 9835;9836;9837 | chr2:178764767;178764766;178764765 | chr2:179629494;179629493;179629492 |
| Novex-1 | 3204 | 9835;9836;9837 | chr2:178764767;178764766;178764765 | chr2:179629494;179629493;179629492 |
| Novex-2 | 3204 | 9835;9836;9837 | chr2:178764767;178764766;178764765 | chr2:179629494;179629493;179629492 |
| Novex-3 | 3250 | 9973;9974;9975 | chr2:178764767;178764766;178764765 | chr2:179629494;179629493;179629492 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/G | rs55634230  |
-2.165 | 0.997 | D | 0.713 | 0.789 | 0.92261678279 | gnomAD-2.1.1 | 7.18E-05 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 8.17082E-04 | None | 3.27E-05 | None | 0 | 0 | 1.63559E-04 |
| V/G | rs55634230 |
-2.165 | 0.997 | D | 0.713 | 0.789 | 0.92261678279 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.53905E-03 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs55634230 |
-2.165 | 0.997 | D | 0.713 | 0.789 | 0.92261678279 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 2E-03 | 0 | None | None | None | 0 | None |
| V/G | rs55634230 |
-2.165 | 0.997 | D | 0.713 | 0.789 | 0.92261678279 | gnomAD-4.0.0 | 2.16864E-05 | None | None | None | None | N | None | 0 | 3.33244E-05 | None | 0 | 4.45692E-04 | None | 0 | 0 | 0 | 5.49028E-05 | 1.28025E-04 |
| V/L | None | None | 0.973 | D | 0.507 | 0.494 | 0.660534388617 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4538 | ambiguous | 0.6778 | pathogenic | -1.592 | Destabilizing | 0.543 | D | 0.273 | neutral | N | 0.517381837 | None | None | N |
| V/C | 0.9353 | likely_pathogenic | 0.9664 | pathogenic | -1.277 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | N |
| V/D | 0.9717 | likely_pathogenic | 0.9926 | pathogenic | -1.508 | Destabilizing | 0.999 | D | 0.754 | deleterious | None | None | None | None | N |
| V/E | 0.8823 | likely_pathogenic | 0.952 | pathogenic | -1.497 | Destabilizing | 0.998 | D | 0.71 | prob.delet. | D | 0.733703111 | None | None | N |
| V/F | 0.7059 | likely_pathogenic | 0.8698 | pathogenic | -1.271 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| V/G | 0.7487 | likely_pathogenic | 0.9059 | pathogenic | -1.91 | Destabilizing | 0.997 | D | 0.713 | prob.delet. | D | 0.584672315 | None | None | N |
| V/H | 0.9792 | likely_pathogenic | 0.9944 | pathogenic | -1.392 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| V/I | 0.1228 | likely_benign | 0.1601 | benign | -0.807 | Destabilizing | 0.99 | D | 0.495 | neutral | None | None | None | None | N |
| V/K | 0.9369 | likely_pathogenic | 0.9778 | pathogenic | -1.151 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | N |
| V/L | 0.5732 | likely_pathogenic | 0.7874 | pathogenic | -0.807 | Destabilizing | 0.973 | D | 0.507 | neutral | D | 0.563960438 | None | None | N |
| V/M | 0.4072 | ambiguous | 0.6481 | pathogenic | -0.764 | Destabilizing | 0.999 | D | 0.719 | prob.delet. | D | 0.71061764 | None | None | N |
| V/N | 0.9301 | likely_pathogenic | 0.9825 | pathogenic | -1.009 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| V/P | 0.9875 | likely_pathogenic | 0.9964 | pathogenic | -1.036 | Destabilizing | 0.999 | D | 0.72 | prob.delet. | None | None | None | None | N |
| V/Q | 0.8783 | likely_pathogenic | 0.9508 | pathogenic | -1.204 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| V/R | 0.8981 | likely_pathogenic | 0.9605 | pathogenic | -0.688 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| V/S | 0.708 | likely_pathogenic | 0.8887 | pathogenic | -1.571 | Destabilizing | 0.995 | D | 0.696 | prob.neutral | None | None | None | None | N |
| V/T | 0.4505 | ambiguous | 0.6925 | pathogenic | -1.451 | Destabilizing | 0.992 | D | 0.585 | neutral | None | None | None | None | N |
| V/W | 0.9931 | likely_pathogenic | 0.9981 | pathogenic | -1.418 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| V/Y | 0.9727 | likely_pathogenic | 0.9907 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | 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.