Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26037 | 78334;78335;78336 | chr2:178568023;178568022;178568021 | chr2:179432750;179432749;179432748 |
| N2AB | 24396 | 73411;73412;73413 | chr2:178568023;178568022;178568021 | chr2:179432750;179432749;179432748 |
| N2A | 23469 | 70630;70631;70632 | chr2:178568023;178568022;178568021 | chr2:179432750;179432749;179432748 |
| N2B | 16972 | 51139;51140;51141 | chr2:178568023;178568022;178568021 | chr2:179432750;179432749;179432748 |
| Novex-1 | 17097 | 51514;51515;51516 | chr2:178568023;178568022;178568021 | chr2:179432750;179432749;179432748 |
| Novex-2 | 17164 | 51715;51716;51717 | chr2:178568023;178568022;178568021 | chr2:179432750;179432749;179432748 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs770807921  |
-1.045 | 1.0 | D | 0.76 | 0.552 | 0.725532541758 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| W/R | rs770807921 |
-1.045 | 1.0 | D | 0.76 | 0.552 | 0.725532541758 | gnomAD-4.0.0 | 1.59216E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85964E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9954 | likely_pathogenic | 0.9964 | pathogenic | -3.253 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| W/C | 0.997 | likely_pathogenic | 0.9979 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.550507301 | None | None | N |
| W/D | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -2.1 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| W/E | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -2.038 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| W/F | 0.7762 | likely_pathogenic | 0.7909 | pathogenic | -2.087 | Highly Destabilizing | 1.0 | D | 0.662 | neutral | None | None | None | None | N |
| W/G | 0.9874 | likely_pathogenic | 0.9894 | pathogenic | -3.436 | Highly Destabilizing | 1.0 | D | 0.672 | neutral | D | 0.549746832 | None | None | N |
| W/H | 0.9928 | likely_pathogenic | 0.9941 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| W/I | 0.9957 | likely_pathogenic | 0.9962 | pathogenic | -2.57 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| W/K | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.668 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| W/L | 0.9775 | likely_pathogenic | 0.9794 | pathogenic | -2.57 | Highly Destabilizing | 1.0 | D | 0.672 | neutral | N | 0.52122087 | None | None | N |
| W/M | 0.9954 | likely_pathogenic | 0.996 | pathogenic | -1.952 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| W/N | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -1.955 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| W/P | 0.9977 | likely_pathogenic | 0.9981 | pathogenic | -2.816 | Highly Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| W/Q | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.035 | Highly Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| W/R | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.76 | deleterious | D | 0.531389088 | None | None | N |
| W/S | 0.9921 | likely_pathogenic | 0.9938 | pathogenic | -2.394 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.526109169 | None | None | N |
| W/T | 0.9972 | likely_pathogenic | 0.9977 | pathogenic | -2.285 | Highly Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| W/V | 0.9946 | likely_pathogenic | 0.9952 | pathogenic | -2.816 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| W/Y | 0.9152 | likely_pathogenic | 0.9229 | pathogenic | -1.849 | Destabilizing | 1.0 | D | 0.598 | neutral | 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.