Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33362 | 100309;100310;100311 | chr2:178537025;178537024;178537023 | chr2:179401752;179401751;179401750 |
| N2AB | 31721 | 95386;95387;95388 | chr2:178537025;178537024;178537023 | chr2:179401752;179401751;179401750 |
| N2A | 30794 | 92605;92606;92607 | chr2:178537025;178537024;178537023 | chr2:179401752;179401751;179401750 |
| N2B | 24297 | 73114;73115;73116 | chr2:178537025;178537024;178537023 | chr2:179401752;179401751;179401750 |
| Novex-1 | 24422 | 73489;73490;73491 | chr2:178537025;178537024;178537023 | chr2:179401752;179401751;179401750 |
| Novex-2 | 24489 | 73690;73691;73692 | chr2:178537025;178537024;178537023 | chr2:179401752;179401751;179401750 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs1378557058  |
-1.596 | 1.0 | D | 0.857 | 0.902 | 0.927561884726 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| Y/C | rs1378557058 |
-1.596 | 1.0 | D | 0.857 | 0.902 | 0.927561884726 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| Y/C | rs1378557058 |
-1.596 | 1.0 | D | 0.857 | 0.902 | 0.927561884726 | gnomAD-4.0.0 | 2.56398E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39423E-06 | 0 | 2.84625E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9945 | likely_pathogenic | 0.9914 | pathogenic | -3.063 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| Y/C | 0.879 | likely_pathogenic | 0.7865 | pathogenic | -1.615 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.656452204 | None | None | N |
| Y/D | 0.9927 | likely_pathogenic | 0.99 | pathogenic | -3.294 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.681758151 | None | None | N |
| Y/E | 0.9981 | likely_pathogenic | 0.9974 | pathogenic | -3.079 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| Y/F | 0.2861 | likely_benign | 0.2137 | benign | -1.079 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | D | 0.629097854 | None | None | N |
| Y/G | 0.9875 | likely_pathogenic | 0.9834 | pathogenic | -3.484 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| Y/H | 0.9573 | likely_pathogenic | 0.9285 | pathogenic | -2.068 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | D | 0.681758151 | None | None | N |
| Y/I | 0.9656 | likely_pathogenic | 0.9457 | pathogenic | -1.662 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| Y/K | 0.9974 | likely_pathogenic | 0.9968 | pathogenic | -2.093 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| Y/L | 0.9616 | likely_pathogenic | 0.9437 | pathogenic | -1.662 | Destabilizing | 0.999 | D | 0.797 | deleterious | None | None | None | None | N |
| Y/M | 0.9863 | likely_pathogenic | 0.9786 | pathogenic | -1.364 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| Y/N | 0.9466 | likely_pathogenic | 0.9284 | pathogenic | -2.881 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.681556347 | None | None | N |
| Y/P | 0.9984 | likely_pathogenic | 0.9981 | pathogenic | -2.144 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| Y/Q | 0.997 | likely_pathogenic | 0.9954 | pathogenic | -2.621 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| Y/R | 0.9925 | likely_pathogenic | 0.9905 | pathogenic | -1.883 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| Y/S | 0.9731 | likely_pathogenic | 0.9585 | pathogenic | -3.246 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.66573879 | None | None | N |
| Y/T | 0.9911 | likely_pathogenic | 0.9857 | pathogenic | -2.911 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| Y/V | 0.9466 | likely_pathogenic | 0.9183 | pathogenic | -2.144 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| Y/W | 0.8368 | likely_pathogenic | 0.7937 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.799 | 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.