Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1366 | 4321;4322;4323 | chr2:178778986;178778985;178778984 | chr2:179643713;179643712;179643711 |
| N2AB | 1366 | 4321;4322;4323 | chr2:178778986;178778985;178778984 | chr2:179643713;179643712;179643711 |
| N2A | 1366 | 4321;4322;4323 | chr2:178778986;178778985;178778984 | chr2:179643713;179643712;179643711 |
| N2B | 1320 | 4183;4184;4185 | chr2:178778986;178778985;178778984 | chr2:179643713;179643712;179643711 |
| Novex-1 | 1320 | 4183;4184;4185 | chr2:178778986;178778985;178778984 | chr2:179643713;179643712;179643711 |
| Novex-2 | 1320 | 4183;4184;4185 | chr2:178778986;178778985;178778984 | chr2:179643713;179643712;179643711 |
| Novex-3 | 1366 | 4321;4322;4323 | chr2:178778986;178778985;178778984 | chr2:179643713;179643712;179643711 |
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 | rs2092516827  |
None | 1.0 | D | 0.783 | 0.65 | 0.644729278666 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs2092516827 |
None | 1.0 | D | 0.783 | 0.65 | 0.644729278666 | gnomAD-4.0.0 | 6.57272E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47007E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7778 | likely_pathogenic | 0.7478 | pathogenic | -1.531 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| A/D | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | -2.583 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.8229479 | None | None | N |
| A/E | 0.997 | likely_pathogenic | 0.9967 | pathogenic | -2.388 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| A/F | 0.9616 | likely_pathogenic | 0.9596 | pathogenic | -0.774 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| A/G | 0.6225 | likely_pathogenic | 0.5887 | pathogenic | -1.725 | Destabilizing | 1.0 | D | 0.559 | neutral | D | 0.694239108 | None | None | N |
| A/H | 0.9959 | likely_pathogenic | 0.9951 | pathogenic | -1.945 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| A/I | 0.7972 | likely_pathogenic | 0.7796 | pathogenic | -0.091 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| A/K | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/L | 0.7692 | likely_pathogenic | 0.7577 | pathogenic | -0.091 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| A/M | 0.9099 | likely_pathogenic | 0.8948 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/N | 0.995 | likely_pathogenic | 0.9933 | pathogenic | -1.556 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| A/P | 0.9984 | likely_pathogenic | 0.9981 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.767902556 | None | None | N |
| A/Q | 0.9898 | likely_pathogenic | 0.989 | pathogenic | -1.38 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| A/R | 0.9948 | likely_pathogenic | 0.9951 | pathogenic | -1.27 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| A/S | 0.44 | ambiguous | 0.4062 | ambiguous | -1.949 | Destabilizing | 1.0 | D | 0.557 | neutral | D | 0.752785782 | None | None | N |
| A/T | 0.7252 | likely_pathogenic | 0.6792 | pathogenic | -1.636 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.741786167 | None | None | N |
| A/V | 0.5863 | likely_pathogenic | 0.5615 | ambiguous | -0.448 | Destabilizing | 1.0 | D | 0.64 | neutral | D | 0.591327676 | None | None | N |
| A/W | 0.9985 | likely_pathogenic | 0.9983 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| A/Y | 0.992 | likely_pathogenic | 0.9911 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.906 | 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.