Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7632 | 23119;23120;23121 | chr2:178721125;178721124;178721123 | chr2:179585852;179585851;179585850 |
| N2AB | 7315 | 22168;22169;22170 | chr2:178721125;178721124;178721123 | chr2:179585852;179585851;179585850 |
| N2A | 6388 | 19387;19388;19389 | chr2:178721125;178721124;178721123 | chr2:179585852;179585851;179585850 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs561354716  |
-2.785 | 0.998 | N | 0.731 | 0.484 | 0.62839878287 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 1.24039E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs561354716 |
-2.785 | 0.998 | N | 0.731 | 0.484 | 0.62839878287 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs561354716 |
-2.785 | 0.998 | N | 0.731 | 0.484 | 0.62839878287 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 1.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| I/T | rs561354716 |
-2.785 | 0.998 | N | 0.731 | 0.484 | 0.62839878287 | gnomAD-4.0.0 | 5.07426E-06 | None | None | None | None | N | None | 8.71992E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9214 | likely_pathogenic | 0.926 | pathogenic | -2.478 | Highly Destabilizing | 0.973 | D | 0.686 | prob.neutral | None | None | None | None | N |
| I/C | 0.9758 | likely_pathogenic | 0.975 | pathogenic | -1.672 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| I/D | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -2.507 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| I/E | 0.9967 | likely_pathogenic | 0.9972 | pathogenic | -2.219 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| I/F | 0.6025 | likely_pathogenic | 0.6512 | pathogenic | -1.396 | Destabilizing | 0.992 | D | 0.754 | deleterious | None | None | None | None | N |
| I/G | 0.9889 | likely_pathogenic | 0.9912 | pathogenic | -3.081 | Highly Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | N |
| I/H | 0.9962 | likely_pathogenic | 0.9964 | pathogenic | -2.577 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| I/K | 0.9943 | likely_pathogenic | 0.9949 | pathogenic | -1.668 | Destabilizing | 0.999 | D | 0.815 | deleterious | N | 0.505805863 | None | None | N |
| I/L | 0.2241 | likely_benign | 0.2949 | benign | -0.705 | Destabilizing | 0.003 | N | 0.227 | neutral | N | 0.475784896 | None | None | N |
| I/M | 0.3472 | ambiguous | 0.3641 | ambiguous | -0.778 | Destabilizing | 0.965 | D | 0.699 | prob.neutral | N | 0.490157144 | None | None | N |
| I/N | 0.9831 | likely_pathogenic | 0.985 | pathogenic | -2.148 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| I/P | 0.9955 | likely_pathogenic | 0.9966 | pathogenic | -1.28 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| I/Q | 0.9941 | likely_pathogenic | 0.9949 | pathogenic | -1.875 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| I/R | 0.9911 | likely_pathogenic | 0.9919 | pathogenic | -1.647 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.517162169 | None | None | N |
| I/S | 0.9724 | likely_pathogenic | 0.9732 | pathogenic | -2.899 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| I/T | 0.9364 | likely_pathogenic | 0.9379 | pathogenic | -2.445 | Highly Destabilizing | 0.998 | D | 0.731 | prob.delet. | N | 0.503432857 | None | None | N |
| I/V | 0.122 | likely_benign | 0.133 | benign | -1.28 | Destabilizing | 0.014 | N | 0.203 | neutral | N | 0.352983398 | None | None | N |
| I/W | 0.9932 | likely_pathogenic | 0.9947 | pathogenic | -1.745 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| I/Y | 0.966 | likely_pathogenic | 0.9708 | pathogenic | -1.461 | Destabilizing | 1.0 | D | 0.807 | 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.