Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21303 | 64132;64133;64134 | chr2:178587304;178587303;178587302 | chr2:179452031;179452030;179452029 |
| N2AB | 19662 | 59209;59210;59211 | chr2:178587304;178587303;178587302 | chr2:179452031;179452030;179452029 |
| N2A | 18735 | 56428;56429;56430 | chr2:178587304;178587303;178587302 | chr2:179452031;179452030;179452029 |
| N2B | 12238 | 36937;36938;36939 | chr2:178587304;178587303;178587302 | chr2:179452031;179452030;179452029 |
| Novex-1 | 12363 | 37312;37313;37314 | chr2:178587304;178587303;178587302 | chr2:179452031;179452030;179452029 |
| Novex-2 | 12430 | 37513;37514;37515 | chr2:178587304;178587303;178587302 | chr2:179452031;179452030;179452029 |
| 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/L | rs372812312  |
None | 0.015 | N | 0.325 | 0.097 | 0.405979908929 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/L | rs372812312 |
None | 0.015 | N | 0.325 | 0.097 | 0.405979908929 | gnomAD-4.0.0 | 6.58025E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47137E-05 | 0 | 0 |
| V/M | rs372812312 |
-1.115 | 0.843 | N | 0.434 | 0.367 | None | gnomAD-2.1.1 | 8.89E-05 | None | None | None | None | N | None | 1.29333E-04 | 0 | None | 4.98604E-04 | 0 | None | 2.94214E-04 | None | 0 | 5.37E-05 | 0 |
| V/M | rs372812312 |
-1.115 | 0.843 | N | 0.434 | 0.367 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 2.07297E-04 | 0 |
| V/M | rs372812312 |
-1.115 | 0.843 | N | 0.434 | 0.367 | None | gnomAD-4.0.0 | 7.31613E-05 | None | None | None | None | N | None | 5.34588E-05 | 0 | None | 4.73133E-04 | 0 | None | 3.12647E-05 | 1.64745E-04 | 5.25661E-05 | 3.07469E-04 | 1.12165E-04 |
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 | 0.7289 | likely_pathogenic | 0.764 | pathogenic | -2.31 | Highly Destabilizing | 0.822 | D | 0.601 | neutral | D | 0.535223063 | None | None | N |
| V/C | 0.9293 | likely_pathogenic | 0.9408 | pathogenic | -1.721 | Destabilizing | 0.998 | D | 0.713 | prob.delet. | None | None | None | None | N |
| V/D | 0.9981 | likely_pathogenic | 0.9979 | pathogenic | -3.151 | Highly Destabilizing | 0.993 | D | 0.87 | deleterious | None | None | None | None | N |
| V/E | 0.9911 | likely_pathogenic | 0.9905 | pathogenic | -2.803 | Highly Destabilizing | 0.97 | D | 0.829 | deleterious | D | 0.547339837 | None | None | N |
| V/F | 0.6543 | likely_pathogenic | 0.681 | pathogenic | -1.221 | Destabilizing | 0.956 | D | 0.715 | prob.delet. | None | None | None | None | N |
| V/G | 0.9326 | likely_pathogenic | 0.9362 | pathogenic | -2.955 | Highly Destabilizing | 0.97 | D | 0.846 | deleterious | D | 0.547339837 | None | None | N |
| V/H | 0.996 | likely_pathogenic | 0.996 | pathogenic | -2.916 | Highly Destabilizing | 0.998 | D | 0.84 | deleterious | None | None | None | None | N |
| V/I | 0.0723 | likely_benign | 0.0762 | benign | -0.419 | Destabilizing | 0.559 | D | 0.505 | neutral | None | None | None | None | N |
| V/K | 0.993 | likely_pathogenic | 0.9917 | pathogenic | -1.689 | Destabilizing | 0.956 | D | 0.804 | deleterious | None | None | None | None | N |
| V/L | 0.2043 | likely_benign | 0.218 | benign | -0.419 | Destabilizing | 0.015 | N | 0.325 | neutral | N | 0.476469969 | None | None | N |
| V/M | 0.3626 | ambiguous | 0.4039 | ambiguous | -0.822 | Destabilizing | 0.843 | D | 0.434 | neutral | N | 0.517372297 | None | None | N |
| V/N | 0.9923 | likely_pathogenic | 0.9925 | pathogenic | -2.45 | Highly Destabilizing | 0.978 | D | 0.866 | deleterious | None | None | None | None | N |
| V/P | 0.9872 | likely_pathogenic | 0.9844 | pathogenic | -1.033 | Destabilizing | 0.993 | D | 0.839 | deleterious | None | None | None | None | N |
| V/Q | 0.9879 | likely_pathogenic | 0.9862 | pathogenic | -2.008 | Highly Destabilizing | 0.978 | D | 0.848 | deleterious | None | None | None | None | N |
| V/R | 0.9873 | likely_pathogenic | 0.9837 | pathogenic | -1.977 | Destabilizing | 0.956 | D | 0.872 | deleterious | None | None | None | None | N |
| V/S | 0.9566 | likely_pathogenic | 0.9592 | pathogenic | -2.953 | Highly Destabilizing | 0.956 | D | 0.772 | deleterious | None | None | None | None | N |
| V/T | 0.7816 | likely_pathogenic | 0.8065 | pathogenic | -2.429 | Highly Destabilizing | 0.86 | D | 0.597 | neutral | None | None | None | None | N |
| V/W | 0.9907 | likely_pathogenic | 0.9916 | pathogenic | -1.741 | Destabilizing | 0.998 | D | 0.818 | deleterious | None | None | None | None | N |
| V/Y | 0.9775 | likely_pathogenic | 0.9794 | pathogenic | -1.457 | Destabilizing | 0.978 | D | 0.71 | prob.delet. | 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.