Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19853 | 59782;59783;59784 | chr2:178592448;178592447;178592446 | chr2:179457175;179457174;179457173 |
| N2AB | 18212 | 54859;54860;54861 | chr2:178592448;178592447;178592446 | chr2:179457175;179457174;179457173 |
| N2A | 17285 | 52078;52079;52080 | chr2:178592448;178592447;178592446 | chr2:179457175;179457174;179457173 |
| N2B | 10788 | 32587;32588;32589 | chr2:178592448;178592447;178592446 | chr2:179457175;179457174;179457173 |
| Novex-1 | 10913 | 32962;32963;32964 | chr2:178592448;178592447;178592446 | chr2:179457175;179457174;179457173 |
| Novex-2 | 10980 | 33163;33164;33165 | chr2:178592448;178592447;178592446 | chr2:179457175;179457174;179457173 |
| 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/R | None | None | 1.0 | D | 0.765 | 0.729 | 0.798788441295 | gnomAD-4.0.0 | 1.59196E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85954E-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 | 0.8142 | likely_pathogenic | 0.7584 | pathogenic | -0.585 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.572380085 | None | None | I |
| G/C | 0.9269 | likely_pathogenic | 0.9142 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| G/D | 0.9496 | likely_pathogenic | 0.9363 | pathogenic | -1.037 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/E | 0.9816 | likely_pathogenic | 0.9773 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.764 | deleterious | D | 0.642300929 | None | None | I |
| G/F | 0.9909 | likely_pathogenic | 0.991 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| G/H | 0.9919 | likely_pathogenic | 0.9917 | pathogenic | -1.401 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | I |
| G/I | 0.99 | likely_pathogenic | 0.9906 | pathogenic | 0.041 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| G/K | 0.9918 | likely_pathogenic | 0.9915 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/L | 0.9892 | likely_pathogenic | 0.9873 | pathogenic | 0.041 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| G/M | 0.9914 | likely_pathogenic | 0.9895 | pathogenic | -0.011 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| G/N | 0.973 | likely_pathogenic | 0.9643 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/P | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -0.123 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | I |
| G/Q | 0.9835 | likely_pathogenic | 0.9797 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | I |
| G/R | 0.9767 | likely_pathogenic | 0.9765 | pathogenic | -0.989 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.625847599 | None | None | I |
| G/S | 0.7648 | likely_pathogenic | 0.6969 | pathogenic | -1.268 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/T | 0.9615 | likely_pathogenic | 0.9569 | pathogenic | -1.151 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| G/V | 0.9815 | likely_pathogenic | 0.9812 | pathogenic | -0.123 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.642300929 | None | None | I |
| G/W | 0.987 | likely_pathogenic | 0.9881 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9892 | likely_pathogenic | 0.9901 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | 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.