Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22446 | 67561;67562;67563 | chr2:178579951;178579950;178579949 | chr2:179444678;179444677;179444676 |
| N2AB | 20805 | 62638;62639;62640 | chr2:178579951;178579950;178579949 | chr2:179444678;179444677;179444676 |
| N2A | 19878 | 59857;59858;59859 | chr2:178579951;178579950;178579949 | chr2:179444678;179444677;179444676 |
| N2B | 13381 | 40366;40367;40368 | chr2:178579951;178579950;178579949 | chr2:179444678;179444677;179444676 |
| Novex-1 | 13506 | 40741;40742;40743 | chr2:178579951;178579950;178579949 | chr2:179444678;179444677;179444676 |
| Novex-2 | 13573 | 40942;40943;40944 | chr2:178579951;178579950;178579949 | chr2:179444678;179444677;179444676 |
| 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 | rs751361453  |
-1.439 | 0.997 | N | 0.683 | 0.379 | 0.532890898078 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.98E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs113934347 |
None | 0.994 | N | 0.659 | 0.143 | 0.492952963295 | gnomAD-4.0.0 | 1.36899E-06 | None | None | None | None | N | None | 2.99097E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65761E-05 |
| V/L | None | None | 0.994 | N | 0.662 | 0.202 | 0.439551795455 | gnomAD-4.0.0 | 6.84495E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99687E-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 | 0.3299 | likely_benign | 0.3016 | benign | -1.33 | Destabilizing | 0.997 | D | 0.683 | prob.neutral | N | 0.513939488 | None | None | N |
| V/C | 0.7921 | likely_pathogenic | 0.7478 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| V/D | 0.8299 | likely_pathogenic | 0.8254 | pathogenic | -0.925 | Destabilizing | 0.999 | D | 0.86 | deleterious | N | 0.515206936 | None | None | N |
| V/E | 0.6032 | likely_pathogenic | 0.5844 | pathogenic | -0.846 | Destabilizing | 0.999 | D | 0.889 | deleterious | None | None | None | None | N |
| V/F | 0.3045 | likely_benign | 0.2734 | benign | -0.766 | Destabilizing | 0.999 | D | 0.875 | deleterious | N | 0.503343651 | None | None | N |
| V/G | 0.4584 | ambiguous | 0.4464 | ambiguous | -1.713 | Destabilizing | 0.999 | D | 0.868 | deleterious | N | 0.515206936 | None | None | N |
| V/H | 0.83 | likely_pathogenic | 0.7936 | pathogenic | -1.076 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| V/I | 0.084 | likely_benign | 0.0809 | benign | -0.354 | Destabilizing | 0.994 | D | 0.659 | prob.neutral | N | 0.484440799 | None | None | N |
| V/K | 0.5957 | likely_pathogenic | 0.5587 | ambiguous | -1.109 | Destabilizing | 0.999 | D | 0.89 | deleterious | None | None | None | None | N |
| V/L | 0.2898 | likely_benign | 0.2615 | benign | -0.354 | Destabilizing | 0.994 | D | 0.662 | prob.neutral | N | 0.475324668 | None | None | N |
| V/M | 0.2277 | likely_benign | 0.1985 | benign | -0.447 | Destabilizing | 0.999 | D | 0.755 | deleterious | None | None | None | None | N |
| V/N | 0.6896 | likely_pathogenic | 0.6542 | pathogenic | -1.095 | Destabilizing | 0.999 | D | 0.857 | deleterious | None | None | None | None | N |
| V/P | 0.9304 | likely_pathogenic | 0.9382 | pathogenic | -0.645 | Destabilizing | 0.999 | D | 0.886 | deleterious | None | None | None | None | N |
| V/Q | 0.5283 | ambiguous | 0.4917 | ambiguous | -1.1 | Destabilizing | 0.999 | D | 0.871 | deleterious | None | None | None | None | N |
| V/R | 0.5573 | ambiguous | 0.5275 | ambiguous | -0.756 | Destabilizing | 0.999 | D | 0.862 | deleterious | None | None | None | None | N |
| V/S | 0.4704 | ambiguous | 0.433 | ambiguous | -1.705 | Destabilizing | 0.999 | D | 0.881 | deleterious | None | None | None | None | N |
| V/T | 0.3304 | likely_benign | 0.2914 | benign | -1.487 | Destabilizing | 0.998 | D | 0.711 | prob.delet. | None | None | None | None | N |
| V/W | 0.9282 | likely_pathogenic | 0.9126 | pathogenic | -0.991 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| V/Y | 0.7676 | likely_pathogenic | 0.7293 | pathogenic | -0.663 | Destabilizing | 0.999 | D | 0.864 | 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.