Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28323 | 85192;85193;85194 | chr2:178561165;178561164;178561163 | chr2:179425892;179425891;179425890 |
| N2AB | 26682 | 80269;80270;80271 | chr2:178561165;178561164;178561163 | chr2:179425892;179425891;179425890 |
| N2A | 25755 | 77488;77489;77490 | chr2:178561165;178561164;178561163 | chr2:179425892;179425891;179425890 |
| N2B | 19258 | 57997;57998;57999 | chr2:178561165;178561164;178561163 | chr2:179425892;179425891;179425890 |
| Novex-1 | 19383 | 58372;58373;58374 | chr2:178561165;178561164;178561163 | chr2:179425892;179425891;179425890 |
| Novex-2 | 19450 | 58573;58574;58575 | chr2:178561165;178561164;178561163 | chr2:179425892;179425891;179425890 |
| 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/F | rs1285180382  |
-1.27 | 0.999 | D | 0.749 | 0.882 | 0.820132662736 | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | N | None | 0 | 2.02946E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/F | rs1285180382 |
-1.27 | 0.999 | D | 0.749 | 0.882 | 0.820132662736 | gnomAD-3.1.2 | 1.64286E-04 | None | None | None | None | N | None | 0 | 1.63741E-03 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/F | rs1285180382 |
-1.27 | 0.999 | D | 0.749 | 0.882 | 0.820132662736 | gnomAD-4.0.0 | 2.04511E-05 | None | None | None | None | N | None | 0 | 5.33458E-04 | None | 0 | 0 | None | 0 | 0 | 8.47597E-07 | 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 | 0.9927 | likely_pathogenic | 0.9844 | pathogenic | -3.27 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| Y/C | 0.8468 | likely_pathogenic | 0.7589 | pathogenic | -1.519 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.663881473 | None | None | N |
| Y/D | 0.9926 | likely_pathogenic | 0.9869 | pathogenic | -3.629 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.679900834 | None | None | N |
| Y/E | 0.9973 | likely_pathogenic | 0.9953 | pathogenic | -3.401 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| Y/F | 0.2139 | likely_benign | 0.2073 | benign | -1.321 | Destabilizing | 0.999 | D | 0.749 | deleterious | D | 0.634669806 | None | None | N |
| Y/G | 0.9824 | likely_pathogenic | 0.9659 | pathogenic | -3.685 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| Y/H | 0.9464 | likely_pathogenic | 0.9138 | pathogenic | -2.489 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.663881473 | None | None | N |
| Y/I | 0.9564 | likely_pathogenic | 0.9322 | pathogenic | -1.868 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| Y/K | 0.9968 | likely_pathogenic | 0.9954 | pathogenic | -2.251 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| Y/L | 0.9385 | likely_pathogenic | 0.9118 | pathogenic | -1.868 | Destabilizing | 0.999 | D | 0.813 | deleterious | None | None | None | None | N |
| Y/M | 0.9665 | likely_pathogenic | 0.9492 | pathogenic | -1.518 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| Y/N | 0.9595 | likely_pathogenic | 0.9319 | pathogenic | -3.085 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.670412444 | None | None | N |
| Y/P | 0.9991 | likely_pathogenic | 0.9984 | pathogenic | -2.355 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| Y/Q | 0.9949 | likely_pathogenic | 0.9914 | pathogenic | -2.787 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| Y/R | 0.9907 | likely_pathogenic | 0.9869 | pathogenic | -2.134 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| Y/S | 0.9778 | likely_pathogenic | 0.9566 | pathogenic | -3.355 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.695920195 | None | None | N |
| Y/T | 0.9908 | likely_pathogenic | 0.9825 | pathogenic | -3.004 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| Y/V | 0.9285 | likely_pathogenic | 0.8852 | pathogenic | -2.355 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| Y/W | 0.7427 | likely_pathogenic | 0.7348 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.827 | 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.