Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1866 | 5821;5822;5823 | chr2:178776268;178776267;178776266 | chr2:179640995;179640994;179640993 |
| N2AB | 1866 | 5821;5822;5823 | chr2:178776268;178776267;178776266 | chr2:179640995;179640994;179640993 |
| N2A | 1866 | 5821;5822;5823 | chr2:178776268;178776267;178776266 | chr2:179640995;179640994;179640993 |
| N2B | 1820 | 5683;5684;5685 | chr2:178776268;178776267;178776266 | chr2:179640995;179640994;179640993 |
| Novex-1 | 1820 | 5683;5684;5685 | chr2:178776268;178776267;178776266 | chr2:179640995;179640994;179640993 |
| Novex-2 | 1820 | 5683;5684;5685 | chr2:178776268;178776267;178776266 | chr2:179640995;179640994;179640993 |
| Novex-3 | 1866 | 5821;5822;5823 | chr2:178776268;178776267;178776266 | chr2:179640995;179640994;179640993 |
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 | rs2092214175  |
None | 1.0 | D | 0.847 | 0.889 | 0.651643192601 | gnomAD-4.0.0 | 8.20898E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.07916E-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 | 0.601 | likely_pathogenic | 0.7777 | pathogenic | -0.585 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.652088783 | None | None | I |
| G/C | 0.9665 | likely_pathogenic | 0.9872 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | D | 0.814076717 | None | None | I |
| G/D | 0.9955 | likely_pathogenic | 0.9984 | pathogenic | -1.216 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.815116634 | None | None | I |
| G/E | 0.9976 | likely_pathogenic | 0.9991 | pathogenic | -1.327 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/F | 0.9983 | likely_pathogenic | 0.9993 | pathogenic | -1.109 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/H | 0.9988 | likely_pathogenic | 0.9996 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | I |
| G/I | 0.9957 | likely_pathogenic | 0.9986 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/K | 0.9994 | likely_pathogenic | 0.9998 | pathogenic | -1.326 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/L | 0.9958 | likely_pathogenic | 0.9984 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/M | 0.9984 | likely_pathogenic | 0.9994 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| G/N | 0.995 | likely_pathogenic | 0.9982 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/P | 0.9989 | likely_pathogenic | 0.9996 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/Q | 0.9981 | likely_pathogenic | 0.9993 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/R | 0.9969 | likely_pathogenic | 0.9987 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.780263969 | None | None | I |
| G/S | 0.7283 | likely_pathogenic | 0.8799 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.702168372 | None | None | I |
| G/T | 0.9712 | likely_pathogenic | 0.9916 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| G/V | 0.9857 | likely_pathogenic | 0.9952 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.744458765 | None | None | I |
| G/W | 0.9981 | likely_pathogenic | 0.9992 | pathogenic | -1.417 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | I |
| G/Y | 0.9982 | likely_pathogenic | 0.9992 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.775 | 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.