Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8890 | 26893;26894;26895 | chr2:178713990;178713989;178713988 | chr2:179578717;179578716;179578715 |
| N2AB | 8573 | 25942;25943;25944 | chr2:178713990;178713989;178713988 | chr2:179578717;179578716;179578715 |
| N2A | 7646 | 23161;23162;23163 | chr2:178713990;178713989;178713988 | chr2:179578717;179578716;179578715 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/S | None | None | 0.351 | N | 0.462 | 0.226 | 0.692975318687 | gnomAD-4.0.0 | 6.84291E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65717E-05 |
| I/T | rs1343627713  |
-1.163 | 0.351 | N | 0.41 | 0.286 | 0.693843120582 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 8.87E-06 | 0 |
| I/T | rs1343627713 |
-1.163 | 0.351 | N | 0.41 | 0.286 | 0.693843120582 | 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 | rs1343627713 |
-1.163 | 0.351 | N | 0.41 | 0.286 | 0.693843120582 | gnomAD-4.0.0 | 1.85928E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56274E-05 | 0 | 1.69534E-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 | 0.2303 | likely_benign | 0.2651 | benign | -1.876 | Destabilizing | 0.129 | N | 0.375 | neutral | None | None | None | None | N |
| I/C | 0.5087 | ambiguous | 0.5508 | ambiguous | -1.191 | Destabilizing | 0.94 | D | 0.427 | neutral | None | None | None | None | N |
| I/D | 0.4964 | ambiguous | 0.5571 | ambiguous | -1.545 | Destabilizing | 0.94 | D | 0.513 | neutral | None | None | None | None | N |
| I/E | 0.3825 | ambiguous | 0.397 | ambiguous | -1.543 | Destabilizing | 0.836 | D | 0.523 | neutral | None | None | None | None | N |
| I/F | 0.1043 | likely_benign | 0.1251 | benign | -1.403 | Destabilizing | 0.002 | N | 0.085 | neutral | N | 0.45886843 | None | None | N |
| I/G | 0.4112 | ambiguous | 0.4664 | ambiguous | -2.206 | Highly Destabilizing | 0.593 | D | 0.501 | neutral | None | None | None | None | N |
| I/H | 0.3019 | likely_benign | 0.3286 | benign | -1.363 | Destabilizing | 0.983 | D | 0.475 | neutral | None | None | None | None | N |
| I/K | 0.2242 | likely_benign | 0.2187 | benign | -1.284 | Destabilizing | 0.593 | D | 0.491 | neutral | None | None | None | None | N |
| I/L | 0.0682 | likely_benign | 0.0676 | benign | -1.032 | Destabilizing | None | N | 0.092 | neutral | N | 0.398742691 | None | None | N |
| I/M | 0.0742 | likely_benign | 0.0723 | benign | -0.726 | Destabilizing | 0.655 | D | 0.37 | neutral | N | 0.466679836 | None | None | N |
| I/N | 0.1696 | likely_benign | 0.188 | benign | -1.119 | Destabilizing | 0.921 | D | 0.511 | neutral | N | 0.440589313 | None | None | N |
| I/P | 0.4892 | ambiguous | 0.5503 | ambiguous | -1.283 | Destabilizing | 0.94 | D | 0.515 | neutral | None | None | None | None | N |
| I/Q | 0.2413 | likely_benign | 0.2439 | benign | -1.343 | Destabilizing | 0.94 | D | 0.521 | neutral | None | None | None | None | N |
| I/R | 0.1571 | likely_benign | 0.1568 | benign | -0.612 | Destabilizing | 0.836 | D | 0.515 | neutral | None | None | None | None | N |
| I/S | 0.1813 | likely_benign | 0.2013 | benign | -1.747 | Destabilizing | 0.351 | N | 0.462 | neutral | N | 0.398355902 | None | None | N |
| I/T | 0.1501 | likely_benign | 0.1692 | benign | -1.632 | Destabilizing | 0.351 | N | 0.41 | neutral | N | 0.429102883 | None | None | N |
| I/V | 0.0777 | likely_benign | 0.0851 | benign | -1.283 | Destabilizing | 0.001 | N | 0.103 | neutral | N | 0.453846612 | None | None | N |
| I/W | 0.4741 | ambiguous | 0.5053 | ambiguous | -1.466 | Destabilizing | 0.983 | D | 0.478 | neutral | None | None | None | None | N |
| I/Y | 0.2951 | likely_benign | 0.3323 | benign | -1.257 | Destabilizing | 0.264 | N | 0.442 | 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.