Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26862 | 80809;80810;80811 | chr2:178565548;178565547;178565546 | chr2:179430275;179430274;179430273 |
| N2AB | 25221 | 75886;75887;75888 | chr2:178565548;178565547;178565546 | chr2:179430275;179430274;179430273 |
| N2A | 24294 | 73105;73106;73107 | chr2:178565548;178565547;178565546 | chr2:179430275;179430274;179430273 |
| N2B | 17797 | 53614;53615;53616 | chr2:178565548;178565547;178565546 | chr2:179430275;179430274;179430273 |
| Novex-1 | 17922 | 53989;53990;53991 | chr2:178565548;178565547;178565546 | chr2:179430275;179430274;179430273 |
| Novex-2 | 17989 | 54190;54191;54192 | chr2:178565548;178565547;178565546 | chr2:179430275;179430274;179430273 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs929588706  |
-1.472 | 0.998 | D | 0.738 | 0.425 | 0.3571064206 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/N | rs929588706 |
-1.472 | 0.998 | D | 0.738 | 0.425 | 0.3571064206 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| S/N | rs929588706 |
-1.472 | 0.998 | D | 0.738 | 0.425 | 0.3571064206 | gnomAD-4.0.0 | 2.47919E-06 | None | None | None | None | N | None | 0 | 3.33489E-05 | None | 0 | 0 | None | 0 | 0 | 8.47718E-07 | 0 | 1.60154E-05 |
| S/R | None | None | 1.0 | D | 0.848 | 0.722 | 0.246773566709 | gnomAD-4.0.0 | 6.84288E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99569E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.5618 | ambiguous | 0.5383 | ambiguous | -0.795 | Destabilizing | 0.998 | D | 0.738 | prob.delet. | None | None | None | None | N |
| S/C | 0.8206 | likely_pathogenic | 0.7999 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.544016522 | None | None | N |
| S/D | 0.9786 | likely_pathogenic | 0.9775 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| S/E | 0.9915 | likely_pathogenic | 0.9927 | pathogenic | -1.28 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| S/F | 0.9959 | likely_pathogenic | 0.9955 | pathogenic | -0.704 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| S/G | 0.174 | likely_benign | 0.1483 | benign | -1.091 | Destabilizing | 1.0 | D | 0.758 | deleterious | N | 0.461422293 | None | None | N |
| S/H | 0.9887 | likely_pathogenic | 0.9899 | pathogenic | -1.478 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| S/I | 0.9919 | likely_pathogenic | 0.9916 | pathogenic | -0.094 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.532242143 | None | None | N |
| S/K | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| S/L | 0.9689 | likely_pathogenic | 0.9677 | pathogenic | -0.094 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| S/M | 0.9747 | likely_pathogenic | 0.9733 | pathogenic | -0.008 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| S/N | 0.9396 | likely_pathogenic | 0.9403 | pathogenic | -1.183 | Destabilizing | 0.998 | D | 0.738 | prob.delet. | D | 0.543002564 | None | None | N |
| S/P | 0.9945 | likely_pathogenic | 0.9956 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| S/Q | 0.9916 | likely_pathogenic | 0.9929 | pathogenic | -1.266 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| S/R | 0.9971 | likely_pathogenic | 0.9973 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.531735164 | None | None | N |
| S/T | 0.7636 | likely_pathogenic | 0.7677 | pathogenic | -1.016 | Destabilizing | 0.988 | D | 0.743 | deleterious | D | 0.523884351 | None | None | N |
| S/V | 0.988 | likely_pathogenic | 0.9875 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| S/W | 0.9933 | likely_pathogenic | 0.993 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| S/Y | 0.9874 | likely_pathogenic | 0.9872 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.885 | 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.