Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15235 | 45928;45929;45930 | chr2:178620907;178620906;178620905 | chr2:179485634;179485633;179485632 |
| N2AB | 13594 | 41005;41006;41007 | chr2:178620907;178620906;178620905 | chr2:179485634;179485633;179485632 |
| N2A | 12667 | 38224;38225;38226 | chr2:178620907;178620906;178620905 | chr2:179485634;179485633;179485632 |
| N2B | 6170 | 18733;18734;18735 | chr2:178620907;178620906;178620905 | chr2:179485634;179485633;179485632 |
| Novex-1 | 6295 | 19108;19109;19110 | chr2:178620907;178620906;178620905 | chr2:179485634;179485633;179485632 |
| Novex-2 | 6362 | 19309;19310;19311 | chr2:178620907;178620906;178620905 | chr2:179485634;179485633;179485632 |
| 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/D | rs376949328  |
-0.358 | 1.0 | N | 0.733 | 0.544 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 1.94175E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs376949328 |
-0.358 | 1.0 | N | 0.733 | 0.544 | None | gnomAD-4.0.0 | 2.05408E-06 | None | None | None | None | N | None | 2.99347E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79975E-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 | 0.2837 | likely_benign | 0.2261 | benign | -0.259 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.574338801 | None | None | N |
| G/C | 0.6445 | likely_pathogenic | 0.5379 | ambiguous | -0.601 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | D | 0.577583831 | None | None | N |
| G/D | 0.4439 | ambiguous | 0.3212 | benign | -0.817 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.512474571 | None | None | N |
| G/E | 0.4865 | ambiguous | 0.3468 | ambiguous | -0.987 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| G/F | 0.8465 | likely_pathogenic | 0.7701 | pathogenic | -1.056 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/H | 0.8069 | likely_pathogenic | 0.7005 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/I | 0.6356 | likely_pathogenic | 0.5117 | ambiguous | -0.375 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| G/K | 0.812 | likely_pathogenic | 0.7023 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/L | 0.7851 | likely_pathogenic | 0.6833 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| G/M | 0.7594 | likely_pathogenic | 0.6561 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/N | 0.5165 | ambiguous | 0.3994 | ambiguous | -0.341 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| G/P | 0.9547 | likely_pathogenic | 0.936 | pathogenic | -0.303 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| G/Q | 0.7284 | likely_pathogenic | 0.6066 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| G/R | 0.7561 | likely_pathogenic | 0.6383 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.752 | deleterious | D | 0.5747723 | None | None | N |
| G/S | 0.2566 | likely_benign | 0.1911 | benign | -0.415 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.531769954 | None | None | N |
| G/T | 0.3815 | ambiguous | 0.2844 | benign | -0.53 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/V | 0.4654 | ambiguous | 0.3583 | ambiguous | -0.303 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | D | 0.552277136 | None | None | N |
| G/W | 0.7871 | likely_pathogenic | 0.695 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/Y | 0.766 | likely_pathogenic | 0.6609 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | 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.