Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21116 | 63571;63572;63573 | chr2:178588061;178588060;178588059 | chr2:179452788;179452787;179452786 |
| N2AB | 19475 | 58648;58649;58650 | chr2:178588061;178588060;178588059 | chr2:179452788;179452787;179452786 |
| N2A | 18548 | 55867;55868;55869 | chr2:178588061;178588060;178588059 | chr2:179452788;179452787;179452786 |
| N2B | 12051 | 36376;36377;36378 | chr2:178588061;178588060;178588059 | chr2:179452788;179452787;179452786 |
| Novex-1 | 12176 | 36751;36752;36753 | chr2:178588061;178588060;178588059 | chr2:179452788;179452787;179452786 |
| Novex-2 | 12243 | 36952;36953;36954 | chr2:178588061;178588060;178588059 | chr2:179452788;179452787;179452786 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs1224580080  |
None | 1.0 | N | 0.667 | 0.608 | 0.616224366892 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| W/C | rs1224580080 |
None | 1.0 | N | 0.667 | 0.608 | 0.616224366892 | gnomAD-4.0.0 | 6.57834E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4715E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9916 | likely_pathogenic | 0.9938 | pathogenic | -3.547 | Highly Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| W/C | 0.9959 | likely_pathogenic | 0.997 | pathogenic | -1.629 | Destabilizing | 1.0 | D | 0.667 | neutral | N | 0.518201768 | None | None | N |
| W/D | 0.9974 | likely_pathogenic | 0.9977 | pathogenic | -2.663 | Highly Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| W/E | 0.9964 | likely_pathogenic | 0.997 | pathogenic | -2.619 | Highly Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| W/F | 0.7043 | likely_pathogenic | 0.7048 | pathogenic | -2.264 | Highly Destabilizing | 1.0 | D | 0.596 | neutral | None | None | None | None | N |
| W/G | 0.958 | likely_pathogenic | 0.9638 | pathogenic | -3.717 | Highly Destabilizing | 1.0 | D | 0.57 | neutral | N | 0.51266836 | None | None | N |
| W/H | 0.9923 | likely_pathogenic | 0.9934 | pathogenic | -1.981 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| W/I | 0.9874 | likely_pathogenic | 0.9889 | pathogenic | -2.897 | Highly Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| W/K | 0.9975 | likely_pathogenic | 0.9979 | pathogenic | -1.85 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | N |
| W/L | 0.9669 | likely_pathogenic | 0.9711 | pathogenic | -2.897 | Highly Destabilizing | 1.0 | D | 0.57 | neutral | N | 0.511147422 | None | None | N |
| W/M | 0.9888 | likely_pathogenic | 0.9908 | pathogenic | -2.265 | Highly Destabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | N |
| W/N | 0.9967 | likely_pathogenic | 0.9971 | pathogenic | -2.09 | Highly Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| W/P | 0.9951 | likely_pathogenic | 0.9954 | pathogenic | -3.133 | Highly Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| W/Q | 0.9976 | likely_pathogenic | 0.9981 | pathogenic | -2.236 | Highly Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| W/R | 0.9962 | likely_pathogenic | 0.997 | pathogenic | -1.032 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | D | 0.523517686 | None | None | N |
| W/S | 0.9833 | likely_pathogenic | 0.9865 | pathogenic | -2.494 | Highly Destabilizing | 1.0 | D | 0.663 | neutral | N | 0.493803636 | None | None | N |
| W/T | 0.9913 | likely_pathogenic | 0.993 | pathogenic | -2.397 | Highly Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| W/V | 0.9864 | likely_pathogenic | 0.9888 | pathogenic | -3.133 | Highly Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| W/Y | 0.884 | likely_pathogenic | 0.8825 | pathogenic | -2.037 | Highly Destabilizing | 1.0 | D | 0.55 | neutral | 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.