Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22231 | 66916;66917;66918 | chr2:178581577;178581576;178581575 | chr2:179446304;179446303;179446302 |
| N2AB | 20590 | 61993;61994;61995 | chr2:178581577;178581576;178581575 | chr2:179446304;179446303;179446302 |
| N2A | 19663 | 59212;59213;59214 | chr2:178581577;178581576;178581575 | chr2:179446304;179446303;179446302 |
| N2B | 13166 | 39721;39722;39723 | chr2:178581577;178581576;178581575 | chr2:179446304;179446303;179446302 |
| Novex-1 | 13291 | 40096;40097;40098 | chr2:178581577;178581576;178581575 | chr2:179446304;179446303;179446302 |
| Novex-2 | 13358 | 40297;40298;40299 | chr2:178581577;178581576;178581575 | chr2:179446304;179446303;179446302 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs760026147  |
-1.633 | 1.0 | D | 0.819 | 0.549 | 0.795329135987 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.66E-05 | 0 | 0 |
| R/C | rs760026147 |
-1.633 | 1.0 | D | 0.819 | 0.549 | 0.795329135987 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/C | rs760026147 |
-1.633 | 1.0 | D | 0.819 | 0.549 | 0.795329135987 | gnomAD-4.0.0 | 9.92409E-06 | None | None | None | None | N | None | 0 | 3.33734E-05 | None | 0 | 0 | None | 3.12715E-05 | 0 | 9.33048E-06 | 1.09873E-05 | 0 |
| R/H | rs200971254 |
-2.31 | 1.0 | D | 0.817 | 0.477 | None | gnomAD-2.1.1 | 4.33418E-04 | None | None | None | None | N | None | 3.88783E-03 | 5.10117E-04 | None | 1.93986E-04 | 0 | None | 0 | None | 0 | 4.71E-05 | 1.41163E-04 |
| R/H | rs200971254 |
-2.31 | 1.0 | D | 0.817 | 0.477 | None | gnomAD-3.1.2 | 1.09182E-03 | None | None | None | None | N | None | 3.69369E-03 | 6.55824E-04 | 0 | 2.88184E-04 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/H | rs200971254 |
-2.31 | 1.0 | D | 0.817 | 0.477 | None | 1000 genomes | 1.79712E-03 | None | None | None | None | N | None | 6.1E-03 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| R/H | rs200971254 |
-2.31 | 1.0 | D | 0.817 | 0.477 | None | gnomAD-4.0.0 | 2.20759E-04 | None | None | None | None | N | None | 3.58887E-03 | 5.50495E-04 | None | 2.02991E-04 | 0 | None | 0 | 0 | 2.28981E-05 | 3.29554E-05 | 2.88443E-04 |
| R/L | rs200971254 |
-0.907 | 1.0 | N | 0.737 | 0.607 | 0.804712098452 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| R/L | rs200971254 |
-0.907 | 1.0 | N | 0.737 | 0.607 | 0.804712098452 | gnomAD-4.0.0 | 4.10829E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99954E-07 | 5.80006E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9805 | likely_pathogenic | 0.9861 | pathogenic | -2.065 | Highly Destabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | N |
| R/C | 0.6396 | likely_pathogenic | 0.7255 | pathogenic | -1.942 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.540247994 | None | None | N |
| R/D | 0.998 | likely_pathogenic | 0.9985 | pathogenic | -1.432 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| R/E | 0.9721 | likely_pathogenic | 0.9785 | pathogenic | -1.193 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| R/F | 0.9944 | likely_pathogenic | 0.9962 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| R/G | 0.9818 | likely_pathogenic | 0.9877 | pathogenic | -2.413 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.55809876 | None | None | N |
| R/H | 0.4935 | ambiguous | 0.5697 | pathogenic | -2.018 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.558352249 | None | None | N |
| R/I | 0.9621 | likely_pathogenic | 0.9735 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| R/K | 0.5044 | ambiguous | 0.5638 | ambiguous | -1.268 | Destabilizing | 0.998 | D | 0.658 | neutral | None | None | None | None | N |
| R/L | 0.9548 | likely_pathogenic | 0.9673 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.516218711 | None | None | N |
| R/M | 0.9706 | likely_pathogenic | 0.9809 | pathogenic | -1.551 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| R/N | 0.9901 | likely_pathogenic | 0.9916 | pathogenic | -1.668 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| R/P | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -1.37 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.558605739 | None | None | N |
| R/Q | 0.4787 | ambiguous | 0.5396 | ambiguous | -1.391 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| R/S | 0.986 | likely_pathogenic | 0.9899 | pathogenic | -2.419 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.520569896 | None | None | N |
| R/T | 0.9745 | likely_pathogenic | 0.9838 | pathogenic | -1.965 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| R/V | 0.9662 | likely_pathogenic | 0.976 | pathogenic | -1.37 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| R/W | 0.9131 | likely_pathogenic | 0.9407 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| R/Y | 0.9795 | likely_pathogenic | 0.9859 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.84 | 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.