Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9522 | 28789;28790;28791 | chr2:178709755;178709754;178709753 | chr2:179574482;179574481;179574480 |
| N2AB | 9205 | 27838;27839;27840 | chr2:178709755;178709754;178709753 | chr2:179574482;179574481;179574480 |
| N2A | 8278 | 25057;25058;25059 | chr2:178709755;178709754;178709753 | chr2:179574482;179574481;179574480 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | None | 0.717 | 0.416 | 0.809114352529 | gnomAD-4.0.0 | 6.8419E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99439E-07 | 0 | 0 |
| P/R | None | None | 1.0 | None | 0.703 | 0.464 | 0.688856029526 | gnomAD-4.0.0 | 2.05257E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47802E-05 | 0 |
| P/S | None | None | 1.0 | None | 0.695 | 0.412 | 0.449474494731 | gnomAD-4.0.0 | 6.84194E-07 | None | None | None | None | I | None | 2.98757E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | None | None | 1.0 | None | 0.683 | 0.438 | 0.609990207021 | gnomAD-4.0.0 | 6.84195E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99449E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.3635 | ambiguous | 0.366 | ambiguous | -0.448 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | I |
| P/C | 0.9399 | likely_pathogenic | 0.9255 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| P/D | 0.8077 | likely_pathogenic | 0.7912 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | I |
| P/E | 0.7421 | likely_pathogenic | 0.7306 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | I |
| P/F | 0.9281 | likely_pathogenic | 0.9179 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | I |
| P/G | 0.7553 | likely_pathogenic | 0.7212 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | I |
| P/H | 0.688 | likely_pathogenic | 0.694 | pathogenic | -0.192 | Destabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | I |
| P/I | 0.8322 | likely_pathogenic | 0.8188 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | I |
| P/K | 0.8019 | likely_pathogenic | 0.8052 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | I |
| P/L | 0.5231 | ambiguous | 0.5226 | ambiguous | -0.312 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| P/M | 0.8014 | likely_pathogenic | 0.7865 | pathogenic | -0.303 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | I |
| P/N | 0.7289 | likely_pathogenic | 0.6778 | pathogenic | -0.081 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| P/Q | 0.6269 | likely_pathogenic | 0.6274 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | I |
| P/R | 0.6734 | likely_pathogenic | 0.6998 | pathogenic | 0.142 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| P/S | 0.5526 | ambiguous | 0.5415 | ambiguous | -0.411 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| P/T | 0.4814 | ambiguous | 0.4977 | ambiguous | -0.445 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| P/V | 0.6987 | likely_pathogenic | 0.682 | pathogenic | -0.324 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | I |
| P/W | 0.9716 | likely_pathogenic | 0.9683 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | I |
| P/Y | 0.8931 | likely_pathogenic | 0.8851 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | I |
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.