Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1096 | 3511;3512;3513 | chr2:178782306;178782305;178782304 | chr2:179647033;179647032;179647031 |
| N2AB | 1096 | 3511;3512;3513 | chr2:178782306;178782305;178782304 | chr2:179647033;179647032;179647031 |
| N2A | 1096 | 3511;3512;3513 | chr2:178782306;178782305;178782304 | chr2:179647033;179647032;179647031 |
| N2B | 1050 | 3373;3374;3375 | chr2:178782306;178782305;178782304 | chr2:179647033;179647032;179647031 |
| Novex-1 | 1050 | 3373;3374;3375 | chr2:178782306;178782305;178782304 | chr2:179647033;179647032;179647031 |
| Novex-2 | 1050 | 3373;3374;3375 | chr2:178782306;178782305;178782304 | chr2:179647033;179647032;179647031 |
| Novex-3 | 1096 | 3511;3512;3513 | chr2:178782306;178782305;178782304 | chr2:179647033;179647032;179647031 |
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/V | rs2154349693  |
None | 1.0 | D | 0.843 | 0.755 | 0.941488383014 | gnomAD-4.0.0 | 1.36814E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79858E-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 | 0.5379 | ambiguous | 0.5892 | pathogenic | -0.24 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.67818797 | None | None | I |
| G/C | 0.845 | likely_pathogenic | 0.884 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.786741533 | None | None | I |
| G/D | 0.7579 | likely_pathogenic | 0.8051 | pathogenic | -0.148 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.614657799 | None | None | I |
| G/E | 0.7945 | likely_pathogenic | 0.8457 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/F | 0.9534 | likely_pathogenic | 0.9637 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/H | 0.9382 | likely_pathogenic | 0.9547 | pathogenic | -0.519 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/I | 0.9322 | likely_pathogenic | 0.9518 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/K | 0.9317 | likely_pathogenic | 0.95 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/L | 0.9339 | likely_pathogenic | 0.948 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/M | 0.9304 | likely_pathogenic | 0.9488 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/N | 0.7657 | likely_pathogenic | 0.7994 | pathogenic | -0.245 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/P | 0.9942 | likely_pathogenic | 0.9958 | pathogenic | -0.258 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/Q | 0.8866 | likely_pathogenic | 0.912 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/R | 0.8818 | likely_pathogenic | 0.9091 | pathogenic | -0.25 | Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.73069954 | None | None | I |
| G/S | 0.3996 | ambiguous | 0.4528 | ambiguous | -0.47 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.63688102 | None | None | I |
| G/T | 0.7336 | likely_pathogenic | 0.7845 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/V | 0.8669 | likely_pathogenic | 0.9023 | pathogenic | -0.258 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.702856708 | None | None | I |
| G/W | 0.8935 | likely_pathogenic | 0.9211 | pathogenic | -1.082 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| G/Y | 0.9079 | likely_pathogenic | 0.9295 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.845 | 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.