Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26077 | 78454;78455;78456 | chr2:178567903;178567902;178567901 | chr2:179432630;179432629;179432628 |
| N2AB | 24436 | 73531;73532;73533 | chr2:178567903;178567902;178567901 | chr2:179432630;179432629;179432628 |
| N2A | 23509 | 70750;70751;70752 | chr2:178567903;178567902;178567901 | chr2:179432630;179432629;179432628 |
| N2B | 17012 | 51259;51260;51261 | chr2:178567903;178567902;178567901 | chr2:179432630;179432629;179432628 |
| Novex-1 | 17137 | 51634;51635;51636 | chr2:178567903;178567902;178567901 | chr2:179432630;179432629;179432628 |
| Novex-2 | 17204 | 51835;51836;51837 | chr2:178567903;178567902;178567901 | chr2:179432630;179432629;179432628 |
| 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/R | rs1553596375  |
None | 0.991 | D | 0.852 | 0.752 | 0.4722639086 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/R | rs1553596375 |
None | 0.991 | D | 0.852 | 0.752 | 0.4722639086 | gnomAD-4.0.0 | 2.56329E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78822E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.5355 | ambiguous | 0.5634 | ambiguous | -0.847 | Destabilizing | 0.807 | D | 0.775 | deleterious | None | None | None | None | N |
| S/C | 0.662 | likely_pathogenic | 0.6763 | pathogenic | -0.825 | Destabilizing | 0.999 | D | 0.832 | deleterious | D | 0.559157577 | None | None | N |
| S/D | 0.9957 | likely_pathogenic | 0.9957 | pathogenic | -1.67 | Destabilizing | 0.998 | D | 0.849 | deleterious | None | None | None | None | N |
| S/E | 0.9972 | likely_pathogenic | 0.9973 | pathogenic | -1.537 | Destabilizing | 0.976 | D | 0.857 | deleterious | None | None | None | None | N |
| S/F | 0.9958 | likely_pathogenic | 0.9967 | pathogenic | -0.574 | Destabilizing | 0.993 | D | 0.897 | deleterious | None | None | None | None | N |
| S/G | 0.4689 | ambiguous | 0.5462 | ambiguous | -1.19 | Destabilizing | 0.969 | D | 0.828 | deleterious | D | 0.55088869 | None | None | N |
| S/H | 0.9938 | likely_pathogenic | 0.9939 | pathogenic | -1.532 | Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| S/I | 0.9905 | likely_pathogenic | 0.992 | pathogenic | 0.004 | Stabilizing | 0.885 | D | 0.889 | deleterious | D | 0.570006903 | None | None | N |
| S/K | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.828 | Destabilizing | 0.976 | D | 0.861 | deleterious | None | None | None | None | N |
| S/L | 0.9619 | likely_pathogenic | 0.9679 | pathogenic | 0.004 | Stabilizing | 0.91 | D | 0.871 | deleterious | None | None | None | None | N |
| S/M | 0.9781 | likely_pathogenic | 0.9817 | pathogenic | -0.033 | Destabilizing | 0.998 | D | 0.834 | deleterious | None | None | None | None | N |
| S/N | 0.9758 | likely_pathogenic | 0.9778 | pathogenic | -1.285 | Destabilizing | 0.997 | D | 0.855 | deleterious | D | 0.569753413 | None | None | N |
| S/P | 0.9929 | likely_pathogenic | 0.9938 | pathogenic | -0.246 | Destabilizing | 0.998 | D | 0.861 | deleterious | None | None | None | None | N |
| S/Q | 0.9951 | likely_pathogenic | 0.9949 | pathogenic | -1.182 | Destabilizing | 0.998 | D | 0.845 | deleterious | None | None | None | None | N |
| S/R | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -0.963 | Destabilizing | 0.991 | D | 0.852 | deleterious | D | 0.55088869 | None | None | N |
| S/T | 0.625 | likely_pathogenic | 0.6759 | pathogenic | -0.995 | Destabilizing | 0.939 | D | 0.825 | deleterious | D | 0.537757958 | None | None | N |
| S/V | 0.972 | likely_pathogenic | 0.9746 | pathogenic | -0.246 | Destabilizing | 0.06 | N | 0.775 | deleterious | None | None | None | None | N |
| S/W | 0.9956 | likely_pathogenic | 0.9958 | pathogenic | -0.8 | Destabilizing | 0.999 | D | 0.865 | deleterious | None | None | None | None | N |
| S/Y | 0.994 | likely_pathogenic | 0.9947 | pathogenic | -0.428 | Destabilizing | 0.998 | D | 0.894 | 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.