Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17229 | 51910;51911;51912 | chr2:178609738;178609737;178609736 | chr2:179474465;179474464;179474463 |
| N2AB | 15588 | 46987;46988;46989 | chr2:178609738;178609737;178609736 | chr2:179474465;179474464;179474463 |
| N2A | 14661 | 44206;44207;44208 | chr2:178609738;178609737;178609736 | chr2:179474465;179474464;179474463 |
| N2B | 8164 | 24715;24716;24717 | chr2:178609738;178609737;178609736 | chr2:179474465;179474464;179474463 |
| Novex-1 | 8289 | 25090;25091;25092 | chr2:178609738;178609737;178609736 | chr2:179474465;179474464;179474463 |
| Novex-2 | 8356 | 25291;25292;25293 | chr2:178609738;178609737;178609736 | chr2:179474465;179474464;179474463 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 1.0 | D | 0.886 | 0.729 | 0.557558522185 | gnomAD-4.0.0 | 6.85114E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00507E-07 | 0 | 0 |
| G/V | rs1471919203  |
-0.336 | 1.0 | D | 0.87 | 0.728 | 0.749991223832 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| G/V | rs1471919203 |
-0.336 | 1.0 | D | 0.87 | 0.728 | 0.749991223832 | gnomAD-4.0.0 | 2.05534E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80101E-06 | 1.16257E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8836 | likely_pathogenic | 0.8552 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.542793933 | None | None | I |
| G/C | 0.9666 | likely_pathogenic | 0.9519 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.570559426 | None | None | I |
| G/D | 0.9801 | likely_pathogenic | 0.9752 | pathogenic | -0.956 | Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.530766064 | None | None | I |
| G/E | 0.9887 | likely_pathogenic | 0.985 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/F | 0.9951 | likely_pathogenic | 0.9919 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/H | 0.9929 | likely_pathogenic | 0.9898 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/I | 0.9961 | likely_pathogenic | 0.9927 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/K | 0.992 | likely_pathogenic | 0.9897 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/L | 0.9917 | likely_pathogenic | 0.9879 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/M | 0.9952 | likely_pathogenic | 0.9923 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/N | 0.9766 | likely_pathogenic | 0.9712 | pathogenic | -0.661 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/P | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | I |
| G/Q | 0.986 | likely_pathogenic | 0.9817 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | I |
| G/R | 0.9786 | likely_pathogenic | 0.9718 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.546668273 | None | None | I |
| G/S | 0.8397 | likely_pathogenic | 0.803 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.55726411 | None | None | I |
| G/T | 0.9746 | likely_pathogenic | 0.9645 | pathogenic | -0.91 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | I |
| G/V | 0.9895 | likely_pathogenic | 0.9819 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.540338397 | None | None | I |
| G/W | 0.9938 | likely_pathogenic | 0.989 | pathogenic | -1.355 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/Y | 0.9932 | likely_pathogenic | 0.9892 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | I |
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.