Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14327 | 43204;43205;43206 | chr2:178633294;178633293;178633292 | chr2:179498021;179498020;179498019 |
| N2AB | 12686 | 38281;38282;38283 | chr2:178633294;178633293;178633292 | chr2:179498021;179498020;179498019 |
| N2A | 11759 | 35500;35501;35502 | chr2:178633294;178633293;178633292 | chr2:179498021;179498020;179498019 |
| N2B | 5262 | 16009;16010;16011 | chr2:178633294;178633293;178633292 | chr2:179498021;179498020;179498019 |
| Novex-1 | 5387 | 16384;16385;16386 | chr2:178633294;178633293;178633292 | chr2:179498021;179498020;179498019 |
| Novex-2 | 5454 | 16585;16586;16587 | chr2:178633294;178633293;178633292 | chr2:179498021;179498020;179498019 |
| 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 | rs375403946  |
-0.216 | 1.0 | N | 0.791 | 0.422 | 0.481988042695 | gnomAD-2.1.1 | 4.29E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.60193E-04 | None | 6.55E-05 | None | 0 | 1.57E-05 | 1.40687E-04 |
| G/R | rs375403946 |
-0.216 | 1.0 | N | 0.791 | 0.422 | 0.481988042695 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 6.55E-05 | 0 | 0 | 1.93573E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs375403946 |
-0.216 | 1.0 | N | 0.791 | 0.422 | 0.481988042695 | gnomAD-4.0.0 | 3.53355E-05 | None | None | None | None | N | None | 2.66795E-05 | 1.66811E-05 | None | 0 | 2.0092E-04 | None | 0 | 0 | 3.22187E-05 | 6.5966E-05 | 1.60128E-05 |
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 | 0.2354 | likely_benign | 0.2065 | benign | -0.342 | Destabilizing | 0.999 | D | 0.757 | deleterious | N | 0.435874982 | None | None | N |
| G/C | 0.5397 | ambiguous | 0.4922 | ambiguous | -0.692 | Destabilizing | 1.0 | D | 0.663 | prob.neutral | None | None | None | None | N |
| G/D | 0.4524 | ambiguous | 0.3788 | ambiguous | -0.508 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/E | 0.5192 | ambiguous | 0.482 | ambiguous | -0.604 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.433554573 | None | None | N |
| G/F | 0.9073 | likely_pathogenic | 0.8975 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.727 | deleterious | None | None | None | None | N |
| G/H | 0.7592 | likely_pathogenic | 0.7287 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.669 | prob.neutral | None | None | None | None | N |
| G/I | 0.7162 | likely_pathogenic | 0.6958 | pathogenic | -0.231 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/K | 0.7928 | likely_pathogenic | 0.7555 | pathogenic | -0.821 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/L | 0.8201 | likely_pathogenic | 0.7966 | pathogenic | -0.231 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| G/M | 0.8482 | likely_pathogenic | 0.8293 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.687 | prob.delet. | None | None | None | None | N |
| G/N | 0.5924 | likely_pathogenic | 0.5119 | ambiguous | -0.479 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/P | 0.7911 | likely_pathogenic | 0.7219 | pathogenic | -0.231 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/Q | 0.6866 | likely_pathogenic | 0.6546 | pathogenic | -0.663 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| G/R | 0.6109 | likely_pathogenic | 0.5929 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.411792632 | None | None | N |
| G/S | 0.1629 | likely_benign | 0.1542 | benign | -0.666 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/T | 0.3935 | ambiguous | 0.3628 | ambiguous | -0.678 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/V | 0.5559 | ambiguous | 0.5336 | ambiguous | -0.231 | Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.4136983 | None | None | N |
| G/W | 0.7807 | likely_pathogenic | 0.788 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.65 | prob.neutral | None | None | None | None | N |
| G/Y | 0.8295 | likely_pathogenic | 0.8163 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.724 | 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.