Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21424 | 64495;64496;64497 | chr2:178586631;178586630;178586629 | chr2:179451358;179451357;179451356 |
| N2AB | 19783 | 59572;59573;59574 | chr2:178586631;178586630;178586629 | chr2:179451358;179451357;179451356 |
| N2A | 18856 | 56791;56792;56793 | chr2:178586631;178586630;178586629 | chr2:179451358;179451357;179451356 |
| N2B | 12359 | 37300;37301;37302 | chr2:178586631;178586630;178586629 | chr2:179451358;179451357;179451356 |
| Novex-1 | 12484 | 37675;37676;37677 | chr2:178586631;178586630;178586629 | chr2:179451358;179451357;179451356 |
| Novex-2 | 12551 | 37876;37877;37878 | chr2:178586631;178586630;178586629 | chr2:179451358;179451357;179451356 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/Q | None | None | 0.999 | N | 0.785 | 0.453 | 0.783626635962 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| L/V | None | None | 0.992 | N | 0.499 | 0.318 | 0.600208187352 | gnomAD-4.0.0 | 1.36889E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99735E-07 | 0 | 1.65733E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.4806 | ambiguous | 0.4529 | ambiguous | -1.631 | Destabilizing | 0.997 | D | 0.64 | neutral | None | None | None | None | N |
| L/C | 0.541 | ambiguous | 0.4914 | ambiguous | -0.867 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| L/D | 0.9158 | likely_pathogenic | 0.8861 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| L/E | 0.7207 | likely_pathogenic | 0.6619 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| L/F | 0.4552 | ambiguous | 0.3349 | benign | -0.939 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| L/G | 0.7568 | likely_pathogenic | 0.7103 | pathogenic | -2.059 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| L/H | 0.5439 | ambiguous | 0.4584 | ambiguous | -1.263 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| L/I | 0.2439 | likely_benign | 0.2055 | benign | -0.458 | Destabilizing | 0.994 | D | 0.464 | neutral | None | None | None | None | N |
| L/K | 0.3977 | ambiguous | 0.3484 | ambiguous | -1.016 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| L/M | 0.1506 | likely_benign | 0.134 | benign | -0.412 | Destabilizing | 0.981 | D | 0.389 | neutral | N | 0.471546595 | None | None | N |
| L/N | 0.5456 | ambiguous | 0.4884 | ambiguous | -1.207 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| L/P | 0.4625 | ambiguous | 0.4657 | ambiguous | -0.823 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.503184062 | None | None | N |
| L/Q | 0.325 | likely_benign | 0.2827 | benign | -1.169 | Destabilizing | 0.999 | D | 0.785 | deleterious | N | 0.465239492 | None | None | N |
| L/R | 0.34 | likely_benign | 0.2986 | benign | -0.685 | Destabilizing | 0.999 | D | 0.782 | deleterious | N | 0.492948426 | None | None | N |
| L/S | 0.6023 | likely_pathogenic | 0.556 | ambiguous | -1.857 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| L/T | 0.2191 | likely_benign | 0.2129 | benign | -1.574 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| L/V | 0.1744 | likely_benign | 0.1597 | benign | -0.823 | Destabilizing | 0.992 | D | 0.499 | neutral | N | 0.476204177 | None | None | N |
| L/W | 0.7263 | likely_pathogenic | 0.6278 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| L/Y | 0.6998 | likely_pathogenic | 0.5904 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.805 | deleterious | 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.