Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9375 | 28348;28349;28350 | chr2:178711113;178711112;178711111 | chr2:179575840;179575839;179575838 |
| N2AB | 9058 | 27397;27398;27399 | chr2:178711113;178711112;178711111 | chr2:179575840;179575839;179575838 |
| N2A | 8131 | 24616;24617;24618 | chr2:178711113;178711112;178711111 | chr2:179575840;179575839;179575838 |
| 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 | rs939996965  |
None | 0.944 | None | 0.642 | 0.544 | 0.565574550146 | gnomAD-4.0.0 | 1.59209E-06 | None | None | None | None | N | None | 0 | 2.28707E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs939996965 |
None | 0.892 | None | 0.658 | 0.545 | 0.599093849917 | gnomAD-4.0.0 | 1.59209E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77269E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | None | None | 0.025 | None | 0.379 | 0.458 | 0.432936702747 | gnomAD-4.0.0 | 1.59195E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85946E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9571 | likely_pathogenic | 0.9441 | pathogenic | -1.97 | Destabilizing | 0.999 | D | 0.758 | deleterious | None | None | None | None | N |
| A/D | 0.9979 | likely_pathogenic | 0.9984 | pathogenic | -2.059 | Highly Destabilizing | 0.994 | D | 0.849 | deleterious | None | None | None | None | N |
| A/E | 0.9957 | likely_pathogenic | 0.9964 | pathogenic | -1.969 | Destabilizing | 0.987 | D | 0.815 | deleterious | None | None | None | None | N |
| A/F | 0.977 | likely_pathogenic | 0.9783 | pathogenic | -1.226 | Destabilizing | 0.975 | D | 0.843 | deleterious | None | None | None | None | N |
| A/G | 0.3621 | ambiguous | 0.3816 | ambiguous | -1.64 | Destabilizing | 0.944 | D | 0.647 | neutral | None | None | None | None | N |
| A/H | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | -1.666 | Destabilizing | 0.999 | D | 0.835 | deleterious | None | None | None | None | N |
| A/I | 0.8767 | likely_pathogenic | 0.8803 | pathogenic | -0.394 | Destabilizing | 0.845 | D | 0.721 | prob.delet. | None | None | None | None | N |
| A/K | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -1.344 | Destabilizing | 0.987 | D | 0.809 | deleterious | None | None | None | None | N |
| A/L | 0.8367 | likely_pathogenic | 0.8427 | pathogenic | -0.394 | Destabilizing | 0.033 | N | 0.464 | neutral | None | None | None | None | N |
| A/M | 0.9248 | likely_pathogenic | 0.9256 | pathogenic | -0.763 | Destabilizing | 0.975 | D | 0.823 | deleterious | None | None | None | None | N |
| A/N | 0.9956 | likely_pathogenic | 0.9957 | pathogenic | -1.481 | Destabilizing | 0.996 | D | 0.853 | deleterious | None | None | None | None | N |
| A/P | 0.9954 | likely_pathogenic | 0.9966 | pathogenic | -0.651 | Destabilizing | 0.994 | D | 0.829 | deleterious | None | None | None | None | N |
| A/Q | 0.9938 | likely_pathogenic | 0.9938 | pathogenic | -1.516 | Destabilizing | 0.996 | D | 0.817 | deleterious | None | None | None | None | N |
| A/R | 0.9956 | likely_pathogenic | 0.996 | pathogenic | -1.179 | Destabilizing | 0.987 | D | 0.823 | deleterious | None | None | None | None | N |
| A/S | 0.5144 | ambiguous | 0.502 | ambiguous | -1.974 | Destabilizing | 0.944 | D | 0.642 | neutral | None | None | None | None | N |
| A/T | 0.727 | likely_pathogenic | 0.7361 | pathogenic | -1.763 | Destabilizing | 0.892 | D | 0.658 | neutral | None | None | None | None | N |
| A/V | 0.5821 | likely_pathogenic | 0.608 | pathogenic | -0.651 | Destabilizing | 0.025 | N | 0.379 | neutral | None | None | None | None | N |
| A/W | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.622 | Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | None | N |
| A/Y | 0.9962 | likely_pathogenic | 0.9962 | pathogenic | -1.176 | Destabilizing | 0.987 | D | 0.859 | 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.