Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25296 | 76111;76112;76113 | chr2:178570246;178570245;178570244 | chr2:179434973;179434972;179434971 |
| N2AB | 23655 | 71188;71189;71190 | chr2:178570246;178570245;178570244 | chr2:179434973;179434972;179434971 |
| N2A | 22728 | 68407;68408;68409 | chr2:178570246;178570245;178570244 | chr2:179434973;179434972;179434971 |
| N2B | 16231 | 48916;48917;48918 | chr2:178570246;178570245;178570244 | chr2:179434973;179434972;179434971 |
| Novex-1 | 16356 | 49291;49292;49293 | chr2:178570246;178570245;178570244 | chr2:179434973;179434972;179434971 |
| Novex-2 | 16423 | 49492;49493;49494 | chr2:178570246;178570245;178570244 | chr2:179434973;179434972;179434971 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs765266847  |
-1.658 | 0.025 | N | 0.401 | 0.308 | 0.527199525852 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 1.66334E-04 |
| V/A | rs765266847 |
-1.658 | 0.025 | N | 0.401 | 0.308 | 0.527199525852 | gnomAD-4.0.0 | 3.42179E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73551E-04 | 1.79914E-06 | 0 | 3.31455E-05 |
| V/G | rs765266847 |
-2.216 | 0.303 | D | 0.697 | 0.5 | 0.673885483428 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| V/G | rs765266847 |
-2.216 | 0.303 | D | 0.697 | 0.5 | 0.673885483428 | gnomAD-4.0.0 | 6.84358E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9957E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1519 | likely_benign | 0.1773 | benign | -1.507 | Destabilizing | 0.025 | N | 0.401 | neutral | N | 0.511741123 | None | None | N |
| V/C | 0.5629 | ambiguous | 0.6322 | pathogenic | -0.999 | Destabilizing | 0.869 | D | 0.507 | neutral | None | None | None | None | N |
| V/D | 0.7779 | likely_pathogenic | 0.7948 | pathogenic | -1.32 | Destabilizing | 0.637 | D | 0.717 | prob.delet. | None | None | None | None | N |
| V/E | 0.5112 | ambiguous | 0.5705 | pathogenic | -1.203 | Destabilizing | 0.303 | N | 0.627 | neutral | N | 0.513008571 | None | None | N |
| V/F | 0.1864 | likely_benign | 0.1884 | benign | -0.894 | Destabilizing | 0.001 | N | 0.313 | neutral | None | None | None | None | N |
| V/G | 0.3716 | ambiguous | 0.3879 | ambiguous | -1.934 | Destabilizing | 0.303 | N | 0.697 | prob.delet. | D | 0.524871856 | None | None | N |
| V/H | 0.6373 | likely_pathogenic | 0.6932 | pathogenic | -1.365 | Destabilizing | 0.869 | D | 0.721 | deleterious | None | None | None | None | N |
| V/I | 0.0771 | likely_benign | 0.0784 | benign | -0.386 | Destabilizing | None | N | 0.272 | neutral | N | 0.471455646 | None | None | N |
| V/K | 0.4627 | ambiguous | 0.5257 | ambiguous | -1.21 | Destabilizing | 0.366 | N | 0.618 | neutral | None | None | None | None | N |
| V/L | 0.1254 | likely_benign | 0.1457 | benign | -0.386 | Destabilizing | None | N | 0.263 | neutral | N | 0.4785179 | None | None | N |
| V/M | 0.1067 | likely_benign | 0.1125 | benign | -0.368 | Destabilizing | 0.007 | N | 0.321 | neutral | None | None | None | None | N |
| V/N | 0.6004 | likely_pathogenic | 0.6202 | pathogenic | -1.272 | Destabilizing | 0.637 | D | 0.717 | prob.delet. | None | None | None | None | N |
| V/P | 0.934 | likely_pathogenic | 0.9461 | pathogenic | -0.727 | Destabilizing | 0.637 | D | 0.645 | neutral | None | None | None | None | N |
| V/Q | 0.3893 | ambiguous | 0.4582 | ambiguous | -1.255 | Destabilizing | 0.366 | N | 0.65 | prob.neutral | None | None | None | None | N |
| V/R | 0.3862 | ambiguous | 0.452 | ambiguous | -0.874 | Destabilizing | 0.366 | N | 0.725 | deleterious | None | None | None | None | N |
| V/S | 0.3139 | likely_benign | 0.3425 | ambiguous | -1.896 | Destabilizing | 0.366 | N | 0.624 | neutral | None | None | None | None | N |
| V/T | 0.1483 | likely_benign | 0.1772 | benign | -1.641 | Destabilizing | 0.075 | N | 0.443 | neutral | None | None | None | None | N |
| V/W | 0.7753 | likely_pathogenic | 0.8255 | pathogenic | -1.202 | Destabilizing | 0.869 | D | 0.731 | deleterious | None | None | None | None | N |
| V/Y | 0.584 | likely_pathogenic | 0.6308 | pathogenic | -0.832 | Destabilizing | 0.125 | N | 0.517 | 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.