Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9719 | 29380;29381;29382 | chr2:178706719;178706718;178706717 | chr2:179571446;179571445;179571444 |
| N2AB | 9402 | 28429;28430;28431 | chr2:178706719;178706718;178706717 | chr2:179571446;179571445;179571444 |
| N2A | 8475 | 25648;25649;25650 | chr2:178706719;178706718;178706717 | chr2:179571446;179571445;179571444 |
| 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 | rs2075926309  |
None | 0.884 | None | 0.471 | 0.301 | 0.244539031024 | gnomAD-4.0.0 | 2.05944E-06 | None | None | None | None | N | None | 3.00463E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.8043E-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 | 0.7289 | likely_pathogenic | 0.7267 | pathogenic | -1.279 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/D | 0.9991 | likely_pathogenic | 0.9973 | pathogenic | -2.674 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| A/E | 0.9976 | likely_pathogenic | 0.9944 | pathogenic | -2.477 | Highly Destabilizing | 0.999 | D | 0.844 | deleterious | None | None | None | None | N |
| A/F | 0.9837 | likely_pathogenic | 0.973 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| A/G | 0.6528 | likely_pathogenic | 0.5078 | ambiguous | -1.751 | Destabilizing | 0.998 | D | 0.725 | prob.delet. | None | None | None | None | N |
| A/H | 0.9979 | likely_pathogenic | 0.9958 | pathogenic | -2.198 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| A/I | 0.9495 | likely_pathogenic | 0.9331 | pathogenic | 0.002 | Stabilizing | 0.999 | D | 0.861 | deleterious | None | None | None | None | N |
| A/K | 0.9993 | likely_pathogenic | 0.9983 | pathogenic | -1.404 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/L | 0.8443 | likely_pathogenic | 0.8325 | pathogenic | 0.002 | Stabilizing | 0.997 | D | 0.785 | deleterious | None | None | None | None | N |
| A/M | 0.9442 | likely_pathogenic | 0.9196 | pathogenic | -0.206 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/N | 0.9966 | likely_pathogenic | 0.9915 | pathogenic | -1.693 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| A/P | 0.9971 | likely_pathogenic | 0.9933 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/Q | 0.9934 | likely_pathogenic | 0.9873 | pathogenic | -1.493 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| A/R | 0.9955 | likely_pathogenic | 0.9912 | pathogenic | -1.464 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| A/S | 0.534 | ambiguous | 0.3635 | ambiguous | -2.07 | Highly Destabilizing | 0.992 | D | 0.715 | prob.delet. | None | None | None | None | N |
| A/T | 0.7596 | likely_pathogenic | 0.6117 | pathogenic | -1.76 | Destabilizing | 0.884 | D | 0.471 | neutral | None | None | None | None | N |
| A/V | 0.7707 | likely_pathogenic | 0.7075 | pathogenic | -0.384 | Destabilizing | 0.996 | D | 0.733 | prob.delet. | None | None | None | None | N |
| A/W | 0.9992 | likely_pathogenic | 0.9981 | pathogenic | -1.585 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| A/Y | 0.9962 | likely_pathogenic | 0.9929 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.908 | 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.