Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15786 | 47581;47582;47583 | chr2:178617995;178617994;178617993 | chr2:179482722;179482721;179482720 |
| N2AB | 14145 | 42658;42659;42660 | chr2:178617995;178617994;178617993 | chr2:179482722;179482721;179482720 |
| N2A | 13218 | 39877;39878;39879 | chr2:178617995;178617994;178617993 | chr2:179482722;179482721;179482720 |
| N2B | 6721 | 20386;20387;20388 | chr2:178617995;178617994;178617993 | chr2:179482722;179482721;179482720 |
| Novex-1 | 6846 | 20761;20762;20763 | chr2:178617995;178617994;178617993 | chr2:179482722;179482721;179482720 |
| Novex-2 | 6913 | 20962;20963;20964 | chr2:178617995;178617994;178617993 | chr2:179482722;179482721;179482720 |
| 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 | 0.83 | 0.547 | 0.574465425021 | gnomAD-4.0.0 | 3.18725E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.56855E-05 | None | 0 | 0 | 0 | 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 | 0.9096 | likely_pathogenic | 0.9283 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.648893396 | None | None | I |
| G/C | 0.9785 | likely_pathogenic | 0.9873 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| G/D | 0.9905 | likely_pathogenic | 0.995 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/E | 0.9946 | likely_pathogenic | 0.9971 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.729094249 | None | None | I |
| G/F | 0.9978 | likely_pathogenic | 0.9984 | pathogenic | -1.01 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/H | 0.9972 | likely_pathogenic | 0.9985 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/I | 0.997 | likely_pathogenic | 0.998 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/K | 0.9961 | likely_pathogenic | 0.9976 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/L | 0.9967 | likely_pathogenic | 0.9976 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/M | 0.9983 | likely_pathogenic | 0.9989 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/N | 0.9919 | likely_pathogenic | 0.996 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/P | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/Q | 0.9956 | likely_pathogenic | 0.9975 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/R | 0.9841 | likely_pathogenic | 0.9904 | pathogenic | -0.63 | Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.599756668 | None | None | I |
| G/S | 0.9166 | likely_pathogenic | 0.9491 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/T | 0.9904 | likely_pathogenic | 0.994 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/V | 0.9929 | likely_pathogenic | 0.9955 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.796 | deleterious | D | 0.7095299 | None | None | I |
| G/W | 0.994 | likely_pathogenic | 0.9965 | pathogenic | -1.251 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/Y | 0.997 | likely_pathogenic | 0.998 | pathogenic | -0.881 | 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.