Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29661 | 89206;89207;89208 | chr2:178554130;178554129;178554128 | chr2:179418857;179418856;179418855 |
| N2AB | 28020 | 84283;84284;84285 | chr2:178554130;178554129;178554128 | chr2:179418857;179418856;179418855 |
| N2A | 27093 | 81502;81503;81504 | chr2:178554130;178554129;178554128 | chr2:179418857;179418856;179418855 |
| N2B | 20596 | 62011;62012;62013 | chr2:178554130;178554129;178554128 | chr2:179418857;179418856;179418855 |
| Novex-1 | 20721 | 62386;62387;62388 | chr2:178554130;178554129;178554128 | chr2:179418857;179418856;179418855 |
| Novex-2 | 20788 | 62587;62588;62589 | chr2:178554130;178554129;178554128 | chr2:179418857;179418856;179418855 |
| 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 | rs764756194  |
-0.572 | 1.0 | N | 0.835 | 0.62 | 0.407901774203 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| G/D | rs764756194 |
-0.572 | 1.0 | N | 0.835 | 0.62 | 0.407901774203 | gnomAD-4.0.0 | 3.07886E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.04751E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.872 | likely_pathogenic | 0.8938 | pathogenic | -0.175 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | N | 0.514476602 | None | None | I |
| G/C | 0.9462 | likely_pathogenic | 0.9504 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.538621244 | None | None | I |
| G/D | 0.9839 | likely_pathogenic | 0.9842 | pathogenic | -0.565 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.521451588 | None | None | I |
| G/E | 0.9895 | likely_pathogenic | 0.9905 | pathogenic | -0.742 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/F | 0.9945 | likely_pathogenic | 0.9951 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/H | 0.9905 | likely_pathogenic | 0.9913 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/I | 0.9938 | likely_pathogenic | 0.9944 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/K | 0.9921 | likely_pathogenic | 0.993 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/L | 0.9915 | likely_pathogenic | 0.9931 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/M | 0.9946 | likely_pathogenic | 0.9955 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/N | 0.9652 | likely_pathogenic | 0.9665 | pathogenic | -0.2 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/P | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/Q | 0.9858 | likely_pathogenic | 0.987 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/R | 0.973 | likely_pathogenic | 0.9757 | pathogenic | -0.081 | Destabilizing | 1.0 | D | 0.858 | deleterious | N | 0.507386257 | None | None | I |
| G/S | 0.7915 | likely_pathogenic | 0.8154 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.515766821 | None | None | I |
| G/T | 0.9761 | likely_pathogenic | 0.9777 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/V | 0.9878 | likely_pathogenic | 0.9893 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.523226014 | None | None | I |
| G/W | 0.9871 | likely_pathogenic | 0.9883 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/Y | 0.9904 | likely_pathogenic | 0.9911 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.819 | 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.