Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10106 | 30541;30542;30543 | chr2:178702571;178702570;178702569 | chr2:179567298;179567297;179567296 |
| N2AB | 9789 | 29590;29591;29592 | chr2:178702571;178702570;178702569 | chr2:179567298;179567297;179567296 |
| N2A | 8862 | 26809;26810;26811 | chr2:178702571;178702570;178702569 | chr2:179567298;179567297;179567296 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | None | None | 1.0 | None | 0.663 | 0.37 | 0.449379577644 | gnomAD-4.0.0 | 1.59086E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9384 | likely_pathogenic | 0.9484 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| A/D | 0.9955 | likely_pathogenic | 0.9966 | pathogenic | -1.445 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/E | 0.9923 | likely_pathogenic | 0.9937 | pathogenic | -1.416 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| A/F | 0.9942 | likely_pathogenic | 0.9948 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| A/G | 0.8272 | likely_pathogenic | 0.8706 | pathogenic | -1.271 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| A/H | 0.996 | likely_pathogenic | 0.9969 | pathogenic | -1.557 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| A/I | 0.9772 | likely_pathogenic | 0.9828 | pathogenic | -0.173 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/K | 0.9975 | likely_pathogenic | 0.9982 | pathogenic | -1.322 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/L | 0.9515 | likely_pathogenic | 0.9563 | pathogenic | -0.173 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/M | 0.977 | likely_pathogenic | 0.9829 | pathogenic | -0.1 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| A/N | 0.9911 | likely_pathogenic | 0.9932 | pathogenic | -1.105 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/P | 0.9891 | likely_pathogenic | 0.9928 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| A/Q | 0.9896 | likely_pathogenic | 0.9918 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/R | 0.9867 | likely_pathogenic | 0.9885 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/S | 0.5453 | ambiguous | 0.6548 | pathogenic | -1.466 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| A/T | 0.8363 | likely_pathogenic | 0.887 | pathogenic | -1.336 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| A/V | 0.8992 | likely_pathogenic | 0.9258 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| A/W | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -1.369 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| A/Y | 0.9959 | likely_pathogenic | 0.9964 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.844 | 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.