Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26008 | 78247;78248;78249 | chr2:178568110;178568109;178568108 | chr2:179432837;179432836;179432835 |
| N2AB | 24367 | 73324;73325;73326 | chr2:178568110;178568109;178568108 | chr2:179432837;179432836;179432835 |
| N2A | 23440 | 70543;70544;70545 | chr2:178568110;178568109;178568108 | chr2:179432837;179432836;179432835 |
| N2B | 16943 | 51052;51053;51054 | chr2:178568110;178568109;178568108 | chr2:179432837;179432836;179432835 |
| Novex-1 | 17068 | 51427;51428;51429 | chr2:178568110;178568109;178568108 | chr2:179432837;179432836;179432835 |
| Novex-2 | 17135 | 51628;51629;51630 | chr2:178568110;178568109;178568108 | chr2:179432837;179432836;179432835 |
| 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 | None | None | 0.958 | N | 0.451 | 0.209 | 0.596902567841 | gnomAD-4.0.0 | 1.36871E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79918E-06 | 0 | 0 |
| V/D | None | None | 0.998 | N | 0.817 | 0.432 | 0.829967811085 | gnomAD-4.0.0 | 6.84356E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15953E-05 | 0 |
| V/F | None | None | 0.988 | N | 0.759 | 0.32 | 0.792114419306 | gnomAD-4.0.0 | 6.8436E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52321E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs781254081  |
-2.152 | 0.994 | N | 0.769 | 0.429 | 0.867461525512 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| V/G | rs781254081 |
-2.152 | 0.994 | N | 0.769 | 0.429 | 0.867461525512 | gnomAD-4.0.0 | 6.84356E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99591E-07 | 0 | 0 |
| V/I | rs748315674 |
-0.777 | 0.825 | N | 0.428 | 0.082 | 0.553103360211 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| V/I | rs748315674 |
-0.777 | 0.825 | N | 0.428 | 0.082 | 0.553103360211 | gnomAD-4.0.0 | 2.73744E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59836E-06 | 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 | 0.1805 | likely_benign | 0.1718 | benign | -1.624 | Destabilizing | 0.958 | D | 0.451 | neutral | N | 0.51382513 | None | None | N |
| V/C | 0.626 | likely_pathogenic | 0.5972 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| V/D | 0.3385 | likely_benign | 0.318 | benign | -2.033 | Highly Destabilizing | 0.998 | D | 0.817 | deleterious | N | 0.482560861 | None | None | N |
| V/E | 0.2671 | likely_benign | 0.2543 | benign | -2.032 | Highly Destabilizing | 0.995 | D | 0.738 | prob.delet. | None | None | None | None | N |
| V/F | 0.1517 | likely_benign | 0.1434 | benign | -1.293 | Destabilizing | 0.988 | D | 0.759 | deleterious | N | 0.521156535 | None | None | N |
| V/G | 0.2547 | likely_benign | 0.2496 | benign | -1.938 | Destabilizing | 0.994 | D | 0.769 | deleterious | N | 0.486069679 | None | None | N |
| V/H | 0.4717 | ambiguous | 0.4324 | ambiguous | -1.479 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| V/I | 0.0644 | likely_benign | 0.063 | benign | -0.849 | Destabilizing | 0.825 | D | 0.428 | neutral | N | 0.484638374 | None | None | N |
| V/K | 0.3948 | ambiguous | 0.3644 | ambiguous | -1.338 | Destabilizing | 0.995 | D | 0.735 | prob.delet. | None | None | None | None | N |
| V/L | 0.1103 | likely_benign | 0.1062 | benign | -0.849 | Destabilizing | 0.067 | N | 0.281 | neutral | N | 0.472901228 | None | None | N |
| V/M | 0.1002 | likely_benign | 0.0938 | benign | -0.677 | Destabilizing | 0.991 | D | 0.689 | prob.neutral | None | None | None | None | N |
| V/N | 0.1978 | likely_benign | 0.1788 | benign | -1.199 | Destabilizing | 0.998 | D | 0.82 | deleterious | None | None | None | None | N |
| V/P | 0.9095 | likely_pathogenic | 0.9052 | pathogenic | -1.075 | Destabilizing | 0.998 | D | 0.777 | deleterious | None | None | None | None | N |
| V/Q | 0.2986 | likely_benign | 0.2803 | benign | -1.418 | Destabilizing | 0.998 | D | 0.792 | deleterious | None | None | None | None | N |
| V/R | 0.3797 | ambiguous | 0.3495 | ambiguous | -0.791 | Destabilizing | 0.995 | D | 0.821 | deleterious | None | None | None | None | N |
| V/S | 0.1782 | likely_benign | 0.1643 | benign | -1.656 | Destabilizing | 0.995 | D | 0.721 | prob.delet. | None | None | None | None | N |
| V/T | 0.1192 | likely_benign | 0.1125 | benign | -1.557 | Destabilizing | 0.968 | D | 0.472 | neutral | None | None | None | None | N |
| V/W | 0.7227 | likely_pathogenic | 0.7022 | pathogenic | -1.504 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| V/Y | 0.419 | ambiguous | 0.3866 | ambiguous | -1.22 | Destabilizing | 0.995 | D | 0.782 | 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.