Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32483 | 97672;97673;97674 | chr2:178542309;178542308;178542307 | chr2:179407036;179407035;179407034 |
| N2AB | 30842 | 92749;92750;92751 | chr2:178542309;178542308;178542307 | chr2:179407036;179407035;179407034 |
| N2A | 29915 | 89968;89969;89970 | chr2:178542309;178542308;178542307 | chr2:179407036;179407035;179407034 |
| N2B | 23418 | 70477;70478;70479 | chr2:178542309;178542308;178542307 | chr2:179407036;179407035;179407034 |
| Novex-1 | 23543 | 70852;70853;70854 | chr2:178542309;178542308;178542307 | chr2:179407036;179407035;179407034 |
| Novex-2 | 23610 | 71053;71054;71055 | chr2:178542309;178542308;178542307 | chr2:179407036;179407035;179407034 |
| 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/C | None | None | 1.0 | D | 0.905 | 0.593 | 0.837764480019 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 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 | 0.7758 | likely_pathogenic | 0.7352 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.514713183 | None | None | N |
| G/C | 0.9595 | likely_pathogenic | 0.9455 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.533324418 | None | None | N |
| G/D | 0.9903 | likely_pathogenic | 0.987 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.914 | deleterious | D | 0.532310459 | None | None | N |
| G/E | 0.9951 | likely_pathogenic | 0.9932 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.951 | deleterious | None | None | None | None | N |
| G/F | 0.9984 | likely_pathogenic | 0.9978 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | None | None | N |
| G/H | 0.9959 | likely_pathogenic | 0.9948 | pathogenic | -1.356 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| G/I | 0.9974 | likely_pathogenic | 0.9965 | pathogenic | -0.223 | Destabilizing | 1.0 | D | 0.937 | deleterious | None | None | None | None | N |
| G/K | 0.9987 | likely_pathogenic | 0.9984 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.951 | deleterious | None | None | None | None | N |
| G/L | 0.9962 | likely_pathogenic | 0.9952 | pathogenic | -0.223 | Destabilizing | 1.0 | D | 0.939 | deleterious | None | None | None | None | N |
| G/M | 0.9977 | likely_pathogenic | 0.997 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| G/N | 0.9886 | likely_pathogenic | 0.9841 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/P | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.941 | deleterious | None | None | None | None | N |
| G/Q | 0.9948 | likely_pathogenic | 0.9936 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.937 | deleterious | None | None | None | None | N |
| G/R | 0.9945 | likely_pathogenic | 0.993 | pathogenic | -0.873 | Destabilizing | 1.0 | D | 0.945 | deleterious | D | 0.532817438 | None | None | N |
| G/S | 0.3712 | ambiguous | 0.3247 | benign | -1.201 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.410089395 | None | None | N |
| G/T | 0.9454 | likely_pathogenic | 0.9302 | pathogenic | -1.117 | Destabilizing | 1.0 | D | 0.945 | deleterious | None | None | None | None | N |
| G/V | 0.9935 | likely_pathogenic | 0.9907 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.942 | deleterious | D | 0.533577907 | None | None | N |
| G/W | 0.9963 | likely_pathogenic | 0.9951 | pathogenic | -1.34 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| G/Y | 0.9977 | likely_pathogenic | 0.9969 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.927 | 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.