Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14410 | 43453;43454;43455 | chr2:178632778;178632777;178632776 | chr2:179497505;179497504;179497503 |
| N2AB | 12769 | 38530;38531;38532 | chr2:178632778;178632777;178632776 | chr2:179497505;179497504;179497503 |
| N2A | 11842 | 35749;35750;35751 | chr2:178632778;178632777;178632776 | chr2:179497505;179497504;179497503 |
| N2B | 5345 | 16258;16259;16260 | chr2:178632778;178632777;178632776 | chr2:179497505;179497504;179497503 |
| Novex-1 | 5470 | 16633;16634;16635 | chr2:178632778;178632777;178632776 | chr2:179497505;179497504;179497503 |
| Novex-2 | 5537 | 16834;16835;16836 | chr2:178632778;178632777;178632776 | chr2:179497505;179497504;179497503 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs759684544  |
-1.346 | 0.247 | D | 0.644 | 0.626 | 0.513958542087 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/L | rs759684544 |
-1.346 | 0.247 | D | 0.644 | 0.626 | 0.513958542087 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | rs759684544 |
-1.346 | 0.247 | D | 0.644 | 0.626 | 0.513958542087 | gnomAD-4.0.0 | 5.12985E-06 | None | None | None | None | N | None | 6.76933E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9769 | likely_pathogenic | 0.9638 | pathogenic | -2.486 | Highly Destabilizing | 0.86 | D | 0.805 | deleterious | None | None | None | None | N |
| F/C | 0.9122 | likely_pathogenic | 0.8387 | pathogenic | -1.34 | Destabilizing | 0.997 | D | 0.825 | deleterious | D | 0.70738437 | None | None | N |
| F/D | 0.9958 | likely_pathogenic | 0.994 | pathogenic | -2.272 | Highly Destabilizing | 0.993 | D | 0.865 | deleterious | None | None | None | None | N |
| F/E | 0.9954 | likely_pathogenic | 0.9938 | pathogenic | -2.105 | Highly Destabilizing | 0.993 | D | 0.867 | deleterious | None | None | None | None | N |
| F/G | 0.9915 | likely_pathogenic | 0.9871 | pathogenic | -2.894 | Highly Destabilizing | 0.978 | D | 0.857 | deleterious | None | None | None | None | N |
| F/H | 0.9728 | likely_pathogenic | 0.9656 | pathogenic | -1.26 | Destabilizing | 0.998 | D | 0.77 | deleterious | None | None | None | None | N |
| F/I | 0.5835 | likely_pathogenic | 0.5027 | ambiguous | -1.193 | Destabilizing | 0.032 | N | 0.453 | neutral | N | 0.516562546 | None | None | N |
| F/K | 0.9957 | likely_pathogenic | 0.9947 | pathogenic | -1.615 | Destabilizing | 0.978 | D | 0.865 | deleterious | None | None | None | None | N |
| F/L | 0.9683 | likely_pathogenic | 0.956 | pathogenic | -1.193 | Destabilizing | 0.247 | N | 0.644 | neutral | D | 0.599709856 | None | None | N |
| F/M | 0.8959 | likely_pathogenic | 0.872 | pathogenic | -0.864 | Destabilizing | 0.956 | D | 0.735 | prob.delet. | None | None | None | None | N |
| F/N | 0.9849 | likely_pathogenic | 0.9793 | pathogenic | -1.926 | Destabilizing | 0.993 | D | 0.868 | deleterious | None | None | None | None | N |
| F/P | 0.9959 | likely_pathogenic | 0.9937 | pathogenic | -1.628 | Destabilizing | 0.993 | D | 0.867 | deleterious | None | None | None | None | N |
| F/Q | 0.9926 | likely_pathogenic | 0.9903 | pathogenic | -1.934 | Destabilizing | 0.998 | D | 0.862 | deleterious | None | None | None | None | N |
| F/R | 0.9889 | likely_pathogenic | 0.9853 | pathogenic | -1.052 | Destabilizing | 0.993 | D | 0.871 | deleterious | None | None | None | None | N |
| F/S | 0.9653 | likely_pathogenic | 0.9478 | pathogenic | -2.629 | Highly Destabilizing | 0.971 | D | 0.853 | deleterious | D | 0.706936404 | None | None | N |
| F/T | 0.9686 | likely_pathogenic | 0.9534 | pathogenic | -2.362 | Highly Destabilizing | 0.956 | D | 0.847 | deleterious | None | None | None | None | N |
| F/V | 0.6623 | likely_pathogenic | 0.5614 | ambiguous | -1.628 | Destabilizing | 0.444 | N | 0.709 | prob.delet. | D | 0.524229774 | None | None | N |
| F/W | 0.9037 | likely_pathogenic | 0.8812 | pathogenic | -0.166 | Destabilizing | 0.998 | D | 0.72 | prob.delet. | None | None | None | None | N |
| F/Y | 0.6201 | likely_pathogenic | 0.5741 | pathogenic | -0.474 | Destabilizing | 0.904 | D | 0.622 | neutral | D | 0.707018532 | 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.