Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2980 | 9163;9164;9165 | chr2:178768898;178768897;178768896 | chr2:179633625;179633624;179633623 |
| N2AB | 2980 | 9163;9164;9165 | chr2:178768898;178768897;178768896 | chr2:179633625;179633624;179633623 |
| N2A | 2980 | 9163;9164;9165 | chr2:178768898;178768897;178768896 | chr2:179633625;179633624;179633623 |
| N2B | 2934 | 9025;9026;9027 | chr2:178768898;178768897;178768896 | chr2:179633625;179633624;179633623 |
| Novex-1 | 2934 | 9025;9026;9027 | chr2:178768898;178768897;178768896 | chr2:179633625;179633624;179633623 |
| Novex-2 | 2934 | 9025;9026;9027 | chr2:178768898;178768897;178768896 | chr2:179633625;179633624;179633623 |
| Novex-3 | 2980 | 9163;9164;9165 | chr2:178768898;178768897;178768896 | chr2:179633625;179633624;179633623 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs72647885  |
-1.659 | 1.0 | N | 0.712 | 0.461 | None | gnomAD-2.1.1 | 5.06553E-04 | None | None | None | None | N | None | 4.12726E-03 | 3.67335E-04 | None | 1.93125E-04 | 0 | None | 6.53E-05 | None | 0 | 1.31957E-04 | 8.31716E-04 |
| A/T | rs72647885 |
-1.659 | 1.0 | N | 0.712 | 0.461 | None | gnomAD-3.1.2 | 1.25668E-03 | None | None | None | None | N | None | 3.94196E-03 | 1.17986E-03 | 0 | 2.88351E-04 | 0 | None | 0 | 3.16456E-03 | 7.35E-05 | 0 | 1.43678E-03 |
| A/T | rs72647885 |
-1.659 | 1.0 | N | 0.712 | 0.461 | None | 1000 genomes | 1.59744E-03 | None | None | None | None | N | None | 4.5E-03 | 2.9E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/T | rs72647885 |
-1.659 | 1.0 | N | 0.712 | 0.461 | None | gnomAD-4.0.0 | 2.78227E-04 | None | None | None | None | N | None | 3.97588E-03 | 6.16811E-04 | None | 2.70289E-04 | 0 | None | 0 | 4.9505E-04 | 4.91536E-05 | 1.31758E-04 | 5.27983E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8488 | likely_pathogenic | 0.8299 | pathogenic | -1.223 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| A/D | 0.9948 | likely_pathogenic | 0.9921 | pathogenic | -1.974 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | D | 0.632723627 | None | None | N |
| A/E | 0.9887 | likely_pathogenic | 0.9804 | pathogenic | -1.973 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| A/F | 0.9754 | likely_pathogenic | 0.9658 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| A/G | 0.6858 | likely_pathogenic | 0.6737 | pathogenic | -1.51 | Destabilizing | 1.0 | D | 0.547 | neutral | N | 0.508786264 | None | None | N |
| A/H | 0.989 | likely_pathogenic | 0.9848 | pathogenic | -1.704 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| A/I | 0.9222 | likely_pathogenic | 0.8822 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| A/K | 0.9919 | likely_pathogenic | 0.9881 | pathogenic | -1.612 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| A/L | 0.8956 | likely_pathogenic | 0.8618 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| A/M | 0.915 | likely_pathogenic | 0.8797 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| A/N | 0.9886 | likely_pathogenic | 0.9829 | pathogenic | -1.403 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| A/P | 0.9924 | likely_pathogenic | 0.9923 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.631958178 | None | None | N |
| A/Q | 0.977 | likely_pathogenic | 0.9646 | pathogenic | -1.547 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| A/R | 0.9711 | likely_pathogenic | 0.9596 | pathogenic | -1.225 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| A/S | 0.4969 | ambiguous | 0.4324 | ambiguous | -1.725 | Destabilizing | 1.0 | D | 0.577 | neutral | D | 0.590030021 | None | None | N |
| A/T | 0.549 | ambiguous | 0.4699 | ambiguous | -1.634 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | N | 0.50546008 | None | None | N |
| A/V | 0.6458 | likely_pathogenic | 0.5591 | ambiguous | -0.712 | Destabilizing | 1.0 | D | 0.634 | neutral | N | 0.459794739 | None | None | N |
| A/W | 0.9968 | likely_pathogenic | 0.996 | pathogenic | -1.594 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| A/Y | 0.9876 | likely_pathogenic | 0.9849 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.72 | 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.