Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19361 | 58306;58307;58308 | chr2:178594413;178594412;178594411 | chr2:179459140;179459139;179459138 |
| N2AB | 17720 | 53383;53384;53385 | chr2:178594413;178594412;178594411 | chr2:179459140;179459139;179459138 |
| N2A | 16793 | 50602;50603;50604 | chr2:178594413;178594412;178594411 | chr2:179459140;179459139;179459138 |
| N2B | 10296 | 31111;31112;31113 | chr2:178594413;178594412;178594411 | chr2:179459140;179459139;179459138 |
| Novex-1 | 10421 | 31486;31487;31488 | chr2:178594413;178594412;178594411 | chr2:179459140;179459139;179459138 |
| Novex-2 | 10488 | 31687;31688;31689 | chr2:178594413;178594412;178594411 | chr2:179459140;179459139;179459138 |
| 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/T | None | None | 1.0 | D | 0.795 | 0.602 | 0.66976639498 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.8954 | likely_pathogenic | 0.892 | pathogenic | -1.826 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/D | 0.9993 | likely_pathogenic | 0.9989 | pathogenic | -2.781 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.57058588 | None | None | N |
| A/E | 0.9988 | likely_pathogenic | 0.9984 | pathogenic | -2.569 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| A/F | 0.9971 | likely_pathogenic | 0.9967 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| A/G | 0.7347 | likely_pathogenic | 0.673 | pathogenic | -2.284 | Highly Destabilizing | 1.0 | D | 0.647 | neutral | D | 0.528336982 | None | None | N |
| A/H | 0.999 | likely_pathogenic | 0.9986 | pathogenic | -1.925 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| A/I | 0.9906 | likely_pathogenic | 0.989 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/K | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| A/L | 0.9733 | likely_pathogenic | 0.9689 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/M | 0.9868 | likely_pathogenic | 0.9851 | pathogenic | -1.428 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/N | 0.9969 | likely_pathogenic | 0.9958 | pathogenic | -1.818 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| A/P | 0.9803 | likely_pathogenic | 0.9528 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.544087834 | None | None | N |
| A/Q | 0.9966 | likely_pathogenic | 0.9958 | pathogenic | -1.58 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/R | 0.9979 | likely_pathogenic | 0.9972 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/S | 0.5251 | ambiguous | 0.4556 | ambiguous | -2.136 | Highly Destabilizing | 1.0 | D | 0.639 | neutral | D | 0.537829956 | None | None | N |
| A/T | 0.904 | likely_pathogenic | 0.8849 | pathogenic | -1.828 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.555009158 | None | None | N |
| A/V | 0.9397 | likely_pathogenic | 0.9271 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | D | 0.550200219 | None | None | N |
| A/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/Y | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -1.009 | Destabilizing | 1.0 | D | 0.868 | 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.