Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29743 | 89452;89453;89454 | chr2:178553778;178553777;178553776 | chr2:179418505;179418504;179418503 |
| N2AB | 28102 | 84529;84530;84531 | chr2:178553778;178553777;178553776 | chr2:179418505;179418504;179418503 |
| N2A | 27175 | 81748;81749;81750 | chr2:178553778;178553777;178553776 | chr2:179418505;179418504;179418503 |
| N2B | 20678 | 62257;62258;62259 | chr2:178553778;178553777;178553776 | chr2:179418505;179418504;179418503 |
| Novex-1 | 20803 | 62632;62633;62634 | chr2:178553778;178553777;178553776 | chr2:179418505;179418504;179418503 |
| Novex-2 | 20870 | 62833;62834;62835 | chr2:178553778;178553777;178553776 | chr2:179418505;179418504;179418503 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs1007947079  |
None | 0.062 | N | 0.549 | 0.242 | 0.578198000816 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/T | rs1007947079 |
None | 0.062 | N | 0.549 | 0.242 | 0.578198000816 | gnomAD-4.0.0 | 5.609E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.66481E-06 | 0 | 0 |
| I/V | rs1456621451 |
-1.123 | None | N | 0.174 | 0.046 | 0.239305524855 | gnomAD-2.1.1 | 4.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.17E-06 | 0 |
| I/V | rs1456621451 |
-1.123 | None | N | 0.174 | 0.046 | 0.239305524855 | gnomAD-4.0.0 | 1.61508E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.90483E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.3306 | likely_benign | 0.3222 | benign | -1.493 | Destabilizing | 0.001 | N | 0.303 | neutral | None | None | None | None | N |
| I/C | 0.7771 | likely_pathogenic | 0.7557 | pathogenic | -1.067 | Destabilizing | 0.824 | D | 0.611 | neutral | None | None | None | None | N |
| I/D | 0.9251 | likely_pathogenic | 0.9157 | pathogenic | -0.739 | Destabilizing | 0.555 | D | 0.695 | prob.neutral | None | None | None | None | N |
| I/E | 0.8146 | likely_pathogenic | 0.8162 | pathogenic | -0.729 | Destabilizing | 0.555 | D | 0.699 | prob.neutral | None | None | None | None | N |
| I/F | 0.3459 | ambiguous | 0.3028 | benign | -0.997 | Destabilizing | 0.317 | N | 0.583 | neutral | N | 0.499874398 | None | None | N |
| I/G | 0.8331 | likely_pathogenic | 0.8204 | pathogenic | -1.813 | Destabilizing | 0.149 | N | 0.683 | prob.neutral | None | None | None | None | N |
| I/H | 0.8392 | likely_pathogenic | 0.8129 | pathogenic | -0.869 | Destabilizing | 0.935 | D | 0.669 | neutral | None | None | None | None | N |
| I/K | 0.6916 | likely_pathogenic | 0.6923 | pathogenic | -0.997 | Destabilizing | 0.555 | D | 0.702 | prob.neutral | None | None | None | None | N |
| I/L | 0.1815 | likely_benign | 0.1635 | benign | -0.691 | Destabilizing | 0.012 | N | 0.396 | neutral | N | 0.469418205 | None | None | N |
| I/M | 0.1627 | likely_benign | 0.1493 | benign | -0.663 | Destabilizing | 0.541 | D | 0.585 | neutral | N | 0.472662685 | None | None | N |
| I/N | 0.6159 | likely_pathogenic | 0.5965 | pathogenic | -0.87 | Destabilizing | 0.741 | D | 0.698 | prob.neutral | N | 0.491527409 | None | None | N |
| I/P | 0.6783 | likely_pathogenic | 0.6429 | pathogenic | -0.926 | Destabilizing | 0.555 | D | 0.689 | prob.neutral | None | None | None | None | N |
| I/Q | 0.7531 | likely_pathogenic | 0.7489 | pathogenic | -1.004 | Destabilizing | 0.791 | D | 0.697 | prob.neutral | None | None | None | None | N |
| I/R | 0.6445 | likely_pathogenic | 0.6177 | pathogenic | -0.419 | Destabilizing | 0.555 | D | 0.695 | prob.neutral | None | None | None | None | N |
| I/S | 0.5229 | ambiguous | 0.5017 | ambiguous | -1.512 | Destabilizing | 0.062 | N | 0.604 | neutral | N | 0.479410635 | None | None | N |
| I/T | 0.2276 | likely_benign | 0.2176 | benign | -1.369 | Destabilizing | 0.062 | N | 0.549 | neutral | N | 0.472916175 | None | None | N |
| I/V | 0.0705 | likely_benign | 0.0691 | benign | -0.926 | Destabilizing | None | N | 0.174 | neutral | N | 0.40686545 | None | None | N |
| I/W | 0.9303 | likely_pathogenic | 0.8978 | pathogenic | -1.022 | Destabilizing | 0.935 | D | 0.691 | prob.neutral | None | None | None | None | N |
| I/Y | 0.7672 | likely_pathogenic | 0.7345 | pathogenic | -0.809 | Destabilizing | 0.555 | D | 0.627 | neutral | 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.