Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16249 | 48970;48971;48972 | chr2:178614862;178614861;178614860 | chr2:179479589;179479588;179479587 |
| N2AB | 14608 | 44047;44048;44049 | chr2:178614862;178614861;178614860 | chr2:179479589;179479588;179479587 |
| N2A | 13681 | 41266;41267;41268 | chr2:178614862;178614861;178614860 | chr2:179479589;179479588;179479587 |
| N2B | 7184 | 21775;21776;21777 | chr2:178614862;178614861;178614860 | chr2:179479589;179479588;179479587 |
| Novex-1 | 7309 | 22150;22151;22152 | chr2:178614862;178614861;178614860 | chr2:179479589;179479588;179479587 |
| Novex-2 | 7376 | 22351;22352;22353 | chr2:178614862;178614861;178614860 | chr2:179479589;179479588;179479587 |
| 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/V | rs371625730  |
-0.545 | 0.999 | N | 0.647 | 0.274 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs371625730 |
-0.545 | 0.999 | N | 0.647 | 0.274 | None | gnomAD-4.0.0 | 6.58415E-06 | None | None | None | None | N | None | 2.41616E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6525 | likely_pathogenic | 0.6774 | pathogenic | -1.835 | Destabilizing | 1.0 | D | 0.735 | deleterious | None | None | None | None | N |
| A/D | 0.994 | likely_pathogenic | 0.9945 | pathogenic | -2.978 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.61908848 | None | None | N |
| A/E | 0.9894 | likely_pathogenic | 0.9877 | pathogenic | -2.772 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| A/F | 0.98 | likely_pathogenic | 0.9768 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/G | 0.5687 | likely_pathogenic | 0.6344 | pathogenic | -2.036 | Highly Destabilizing | 0.999 | D | 0.557 | neutral | D | 0.707187346 | None | None | N |
| A/H | 0.9947 | likely_pathogenic | 0.9942 | pathogenic | -1.993 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| A/I | 0.7818 | likely_pathogenic | 0.7655 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| A/K | 0.9976 | likely_pathogenic | 0.9972 | pathogenic | -1.403 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| A/L | 0.7848 | likely_pathogenic | 0.7585 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/M | 0.8628 | likely_pathogenic | 0.839 | pathogenic | -1.082 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/N | 0.9732 | likely_pathogenic | 0.975 | pathogenic | -1.854 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| A/P | 0.8121 | likely_pathogenic | 0.852 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.565742645 | None | None | N |
| A/Q | 0.9864 | likely_pathogenic | 0.9848 | pathogenic | -1.643 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| A/R | 0.9914 | likely_pathogenic | 0.9902 | pathogenic | -1.451 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| A/S | 0.4316 | ambiguous | 0.4845 | ambiguous | -2.171 | Highly Destabilizing | 0.999 | D | 0.597 | neutral | D | 0.644842438 | None | None | N |
| A/T | 0.5123 | ambiguous | 0.5269 | ambiguous | -1.861 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.602433555 | None | None | N |
| A/V | 0.4564 | ambiguous | 0.4503 | ambiguous | -0.861 | Destabilizing | 0.999 | D | 0.647 | neutral | N | 0.503294193 | None | None | N |
| A/W | 0.9982 | likely_pathogenic | 0.9978 | pathogenic | -1.413 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| A/Y | 0.9918 | likely_pathogenic | 0.9903 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.843 | 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.