Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18575 | 55948;55949;55950 | chr2:178601274;178601273;178601272 | chr2:179466001;179466000;179465999 |
| N2AB | 16934 | 51025;51026;51027 | chr2:178601274;178601273;178601272 | chr2:179466001;179466000;179465999 |
| N2A | 16007 | 48244;48245;48246 | chr2:178601274;178601273;178601272 | chr2:179466001;179466000;179465999 |
| N2B | 9510 | 28753;28754;28755 | chr2:178601274;178601273;178601272 | chr2:179466001;179466000;179465999 |
| Novex-1 | 9635 | 29128;29129;29130 | chr2:178601274;178601273;178601272 | chr2:179466001;179466000;179465999 |
| Novex-2 | 9702 | 29329;29330;29331 | chr2:178601274;178601273;178601272 | chr2:179466001;179466000;179465999 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/Y | rs368524442  |
0.163 | 1.0 | N | 0.881 | 0.503 | 0.52586976336 | gnomAD-2.1.1 | 4.91E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.25E-05 | None | 0 | None | 0 | 0 | 0 |
| D/Y | rs368524442 |
0.163 | 1.0 | N | 0.881 | 0.503 | 0.52586976336 | gnomAD-4.0.0 | 1.77243E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.1059E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.902 | likely_pathogenic | 0.9206 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.511952687 | None | None | N |
| D/C | 0.9823 | likely_pathogenic | 0.9861 | pathogenic | -0.002 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| D/E | 0.7942 | likely_pathogenic | 0.8268 | pathogenic | -0.385 | Destabilizing | 0.999 | D | 0.56 | neutral | N | 0.490348051 | None | None | N |
| D/F | 0.9726 | likely_pathogenic | 0.9749 | pathogenic | -0.376 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| D/G | 0.9464 | likely_pathogenic | 0.9508 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.514590348 | None | None | N |
| D/H | 0.9013 | likely_pathogenic | 0.9186 | pathogenic | -0.265 | Destabilizing | 1.0 | D | 0.901 | deleterious | N | 0.484393704 | None | None | N |
| D/I | 0.9728 | likely_pathogenic | 0.979 | pathogenic | 0.087 | Stabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| D/K | 0.9787 | likely_pathogenic | 0.9839 | pathogenic | 0.158 | Stabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| D/L | 0.9498 | likely_pathogenic | 0.9579 | pathogenic | 0.087 | Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| D/M | 0.9876 | likely_pathogenic | 0.9907 | pathogenic | 0.272 | Stabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| D/N | 0.5489 | ambiguous | 0.628 | pathogenic | -0.073 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.51257155 | None | None | N |
| D/P | 0.977 | likely_pathogenic | 0.9755 | pathogenic | -0.04 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| D/Q | 0.9642 | likely_pathogenic | 0.9745 | pathogenic | -0.051 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| D/R | 0.9825 | likely_pathogenic | 0.9864 | pathogenic | 0.304 | Stabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| D/S | 0.755 | likely_pathogenic | 0.7973 | pathogenic | -0.183 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| D/T | 0.9454 | likely_pathogenic | 0.9624 | pathogenic | -0.043 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/V | 0.9425 | likely_pathogenic | 0.9544 | pathogenic | -0.04 | Destabilizing | 1.0 | D | 0.849 | deleterious | N | 0.480670721 | None | None | N |
| D/W | 0.9926 | likely_pathogenic | 0.9939 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| D/Y | 0.8187 | likely_pathogenic | 0.8505 | pathogenic | -0.159 | Destabilizing | 1.0 | D | 0.881 | deleterious | N | 0.478544353 | 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.