Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1589 | 4990;4991;4992 | chr2:178777198;178777197;178777196 | chr2:179641925;179641924;179641923 |
| N2AB | 1589 | 4990;4991;4992 | chr2:178777198;178777197;178777196 | chr2:179641925;179641924;179641923 |
| N2A | 1589 | 4990;4991;4992 | chr2:178777198;178777197;178777196 | chr2:179641925;179641924;179641923 |
| N2B | 1543 | 4852;4853;4854 | chr2:178777198;178777197;178777196 | chr2:179641925;179641924;179641923 |
| Novex-1 | 1543 | 4852;4853;4854 | chr2:178777198;178777197;178777196 | chr2:179641925;179641924;179641923 |
| Novex-2 | 1543 | 4852;4853;4854 | chr2:178777198;178777197;178777196 | chr2:179641925;179641924;179641923 |
| Novex-3 | 1589 | 4990;4991;4992 | chr2:178777198;178777197;178777196 | chr2:179641925;179641924;179641923 |
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 | None | None | 1.0 | D | 0.891 | 0.923 | 0.940765596123 | gnomAD-4.0.0 | 1.59062E-06 | None | None | None | None | N | None | 5.65419E-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 | 0.9986 | likely_pathogenic | 0.9979 | pathogenic | -2.723 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| W/C | 0.9985 | likely_pathogenic | 0.9977 | pathogenic | -1.714 | Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.73721964 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.324 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/E | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.195 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/F | 0.4654 | ambiguous | 0.4951 | ambiguous | -1.669 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| W/G | 0.9958 | likely_pathogenic | 0.9935 | pathogenic | -2.978 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.737253532 | None | None | N |
| W/H | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -2.203 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| W/I | 0.9828 | likely_pathogenic | 0.9791 | pathogenic | -1.763 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.592 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| W/L | 0.9469 | likely_pathogenic | 0.9355 | pathogenic | -1.763 | Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.737253532 | None | None | N |
| W/M | 0.9934 | likely_pathogenic | 0.9908 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| W/N | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.396 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| W/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.112 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.125 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.548 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.73721964 | None | None | N |
| W/S | 0.9987 | likely_pathogenic | 0.9979 | pathogenic | -3.479 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.73721964 | None | None | N |
| W/T | 0.9989 | likely_pathogenic | 0.9982 | pathogenic | -3.271 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/V | 0.9884 | likely_pathogenic | 0.9851 | pathogenic | -2.112 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| W/Y | 0.9223 | likely_pathogenic | 0.9186 | pathogenic | -1.549 | Destabilizing | 1.0 | D | 0.77 | 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.