Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10095 | 30508;30509;30510 | chr2:178702604;178702603;178702602 | chr2:179567331;179567330;179567329 |
| N2AB | 9778 | 29557;29558;29559 | chr2:178702604;178702603;178702602 | chr2:179567331;179567330;179567329 |
| N2A | 8851 | 26776;26777;26778 | chr2:178702604;178702603;178702602 | chr2:179567331;179567330;179567329 |
| 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/T | rs201635835  |
-1.402 | 1.0 | None | 0.754 | 0.285 | None | gnomAD-2.1.1 | 6.06E-05 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.1683E-04 | 1.40017E-04 |
| A/T | rs201635835 |
-1.402 | 1.0 | None | 0.754 | 0.285 | None | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.02905E-04 | 0 | 0 |
| A/T | rs201635835 |
-1.402 | 1.0 | None | 0.754 | 0.285 | None | gnomAD-4.0.0 | 8.73615E-05 | None | None | None | None | N | None | 0 | 4.99817E-05 | None | 0 | 0 | None | 0 | 0 | 1.12724E-04 | 0 | 8.00154E-05 |
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 | 0.9764 | likely_pathogenic | 0.94 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| A/D | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -1.229 | Destabilizing | 0.999 | D | 0.842 | deleterious | None | None | None | None | N |
| A/E | 0.9983 | likely_pathogenic | 0.9978 | pathogenic | -1.101 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | None | N |
| A/F | 0.993 | likely_pathogenic | 0.9918 | pathogenic | -0.67 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| A/G | 0.9026 | likely_pathogenic | 0.8495 | pathogenic | -1.256 | Destabilizing | 0.998 | D | 0.576 | neutral | None | None | None | None | N |
| A/H | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -1.587 | Destabilizing | 0.844 | D | 0.559 | neutral | None | None | None | None | N |
| A/I | 0.9865 | likely_pathogenic | 0.9764 | pathogenic | 0.27 | Stabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| A/K | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -0.979 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/L | 0.9591 | likely_pathogenic | 0.9347 | pathogenic | 0.27 | Stabilizing | 0.998 | D | 0.739 | prob.delet. | None | None | None | None | N |
| A/M | 0.9888 | likely_pathogenic | 0.9803 | pathogenic | 0.095 | Stabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| A/N | 0.9988 | likely_pathogenic | 0.9983 | pathogenic | -1.03 | Destabilizing | 0.999 | D | 0.844 | deleterious | None | None | None | None | N |
| A/P | 0.9987 | likely_pathogenic | 0.9981 | pathogenic | -0.049 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| A/Q | 0.9962 | likely_pathogenic | 0.9948 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/R | 0.994 | likely_pathogenic | 0.9923 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| A/S | 0.8668 | likely_pathogenic | 0.8231 | pathogenic | -1.522 | Destabilizing | 0.998 | D | 0.591 | neutral | None | None | None | None | N |
| A/T | 0.9561 | likely_pathogenic | 0.9232 | pathogenic | -1.249 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| A/V | 0.9337 | likely_pathogenic | 0.8707 | pathogenic | -0.049 | Destabilizing | 0.999 | D | 0.647 | neutral | None | None | None | None | N |
| A/W | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.265 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| A/Y | 0.9982 | likely_pathogenic | 0.9977 | pathogenic | -0.696 | Destabilizing | 0.999 | D | 0.833 | 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.