Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29690 | 89293;89294;89295 | chr2:178554043;178554042;178554041 | chr2:179418770;179418769;179418768 |
| N2AB | 28049 | 84370;84371;84372 | chr2:178554043;178554042;178554041 | chr2:179418770;179418769;179418768 |
| N2A | 27122 | 81589;81590;81591 | chr2:178554043;178554042;178554041 | chr2:179418770;179418769;179418768 |
| N2B | 20625 | 62098;62099;62100 | chr2:178554043;178554042;178554041 | chr2:179418770;179418769;179418768 |
| Novex-1 | 20750 | 62473;62474;62475 | chr2:178554043;178554042;178554041 | chr2:179418770;179418769;179418768 |
| Novex-2 | 20817 | 62674;62675;62676 | chr2:178554043;178554042;178554041 | chr2:179418770;179418769;179418768 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs1209113873  |
-0.281 | 1.0 | N | 0.657 | 0.337 | 0.268660756437 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs1209113873 |
-0.281 | 1.0 | N | 0.657 | 0.337 | 0.268660756437 | gnomAD-4.0.0 | 1.36843E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.03854E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8195 | likely_pathogenic | 0.8608 | pathogenic | -0.088 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.496967379 | None | None | N |
| D/C | 0.9576 | likely_pathogenic | 0.968 | pathogenic | -0.232 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| D/E | 0.5206 | ambiguous | 0.5561 | ambiguous | -0.418 | Destabilizing | 1.0 | D | 0.434 | neutral | N | 0.455099327 | None | None | N |
| D/F | 0.9586 | likely_pathogenic | 0.9698 | pathogenic | 0.401 | Stabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| D/G | 0.7476 | likely_pathogenic | 0.8024 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.468783487 | None | None | N |
| D/H | 0.9098 | likely_pathogenic | 0.9371 | pathogenic | 0.653 | Stabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.466391581 | None | None | N |
| D/I | 0.9511 | likely_pathogenic | 0.9645 | pathogenic | 0.622 | Stabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| D/K | 0.9557 | likely_pathogenic | 0.9676 | pathogenic | 0.222 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| D/L | 0.9314 | likely_pathogenic | 0.9455 | pathogenic | 0.622 | Stabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| D/M | 0.973 | likely_pathogenic | 0.982 | pathogenic | 0.517 | Stabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| D/N | 0.5704 | likely_pathogenic | 0.6463 | pathogenic | -0.391 | Destabilizing | 1.0 | D | 0.657 | neutral | N | 0.521231105 | None | None | N |
| D/P | 0.9917 | likely_pathogenic | 0.9937 | pathogenic | 0.41 | Stabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| D/Q | 0.9278 | likely_pathogenic | 0.9462 | pathogenic | -0.277 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| D/R | 0.9589 | likely_pathogenic | 0.9705 | pathogenic | 0.587 | Stabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| D/S | 0.7244 | likely_pathogenic | 0.7932 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| D/T | 0.8801 | likely_pathogenic | 0.9113 | pathogenic | -0.265 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| D/V | 0.8558 | likely_pathogenic | 0.8928 | pathogenic | 0.41 | Stabilizing | 1.0 | D | 0.809 | deleterious | N | 0.515593212 | None | None | N |
| D/W | 0.9918 | likely_pathogenic | 0.9943 | pathogenic | 0.598 | Stabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| D/Y | 0.7863 | likely_pathogenic | 0.8316 | pathogenic | 0.673 | Stabilizing | 1.0 | D | 0.783 | deleterious | N | 0.481813264 | 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.