Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26227 | 78904;78905;78906 | chr2:178567453;178567452;178567451 | chr2:179432180;179432179;179432178 |
| N2AB | 24586 | 73981;73982;73983 | chr2:178567453;178567452;178567451 | chr2:179432180;179432179;179432178 |
| N2A | 23659 | 71200;71201;71202 | chr2:178567453;178567452;178567451 | chr2:179432180;179432179;179432178 |
| N2B | 17162 | 51709;51710;51711 | chr2:178567453;178567452;178567451 | chr2:179432180;179432179;179432178 |
| Novex-1 | 17287 | 52084;52085;52086 | chr2:178567453;178567452;178567451 | chr2:179432180;179432179;179432178 |
| Novex-2 | 17354 | 52285;52286;52287 | chr2:178567453;178567452;178567451 | chr2:179432180;179432179;179432178 |
| 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/L | rs1706315809  |
None | 1.0 | D | 0.789 | 0.923 | 0.951195235736 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/L | rs1706315809 |
None | 1.0 | D | 0.789 | 0.923 | 0.951195235736 | gnomAD-4.0.0 | 1.31539E-05 | None | None | None | None | N | None | 4.82835E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.9977 | likely_pathogenic | 0.9978 | pathogenic | -2.964 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/C | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -1.848 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.718852648 | None | None | N |
| W/D | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.451 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.332 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| W/F | 0.6545 | likely_pathogenic | 0.6648 | pathogenic | -1.868 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| W/G | 0.9895 | likely_pathogenic | 0.9896 | pathogenic | -3.203 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.718650844 | None | None | N |
| W/H | 0.998 | likely_pathogenic | 0.998 | pathogenic | -2.23 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| W/I | 0.9762 | likely_pathogenic | 0.9763 | pathogenic | -2.05 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.759 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| W/L | 0.9576 | likely_pathogenic | 0.9577 | pathogenic | -2.05 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.702399318 | None | None | N |
| W/M | 0.9904 | likely_pathogenic | 0.9903 | pathogenic | -1.547 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| W/N | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -3.534 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.383 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.312 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| W/R | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.585 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.718852648 | None | None | N |
| W/S | 0.9977 | likely_pathogenic | 0.9977 | pathogenic | -3.63 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.718852648 | None | None | N |
| W/T | 0.9978 | likely_pathogenic | 0.998 | pathogenic | -3.44 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| W/V | 0.987 | likely_pathogenic | 0.987 | pathogenic | -2.383 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| W/Y | 0.9068 | likely_pathogenic | 0.9094 | pathogenic | -1.745 | Destabilizing | 1.0 | D | 0.806 | 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.