Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22142 | 66649;66650;66651 | chr2:178581945;178581944;178581943 | chr2:179446672;179446671;179446670 |
| N2AB | 20501 | 61726;61727;61728 | chr2:178581945;178581944;178581943 | chr2:179446672;179446671;179446670 |
| N2A | 19574 | 58945;58946;58947 | chr2:178581945;178581944;178581943 | chr2:179446672;179446671;179446670 |
| N2B | 13077 | 39454;39455;39456 | chr2:178581945;178581944;178581943 | chr2:179446672;179446671;179446670 |
| Novex-1 | 13202 | 39829;39830;39831 | chr2:178581945;178581944;178581943 | chr2:179446672;179446671;179446670 |
| Novex-2 | 13269 | 40030;40031;40032 | chr2:178581945;178581944;178581943 | chr2:179446672;179446671;179446670 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs771038770  |
-1.124 | 0.999 | D | 0.889 | 0.594 | 0.532696708436 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.4763 | ambiguous | 0.4154 | ambiguous | -0.466 | Destabilizing | 0.998 | D | 0.864 | deleterious | None | None | None | None | N |
| S/C | 0.561 | ambiguous | 0.5038 | ambiguous | -0.611 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.553232548 | None | None | N |
| S/D | 0.9951 | likely_pathogenic | 0.9939 | pathogenic | -1.665 | Destabilizing | 0.999 | D | 0.891 | deleterious | None | None | None | None | N |
| S/E | 0.9967 | likely_pathogenic | 0.9966 | pathogenic | -1.599 | Destabilizing | 0.999 | D | 0.884 | deleterious | None | None | None | None | N |
| S/F | 0.9958 | likely_pathogenic | 0.9944 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.935 | deleterious | None | None | None | None | N |
| S/G | 0.4939 | ambiguous | 0.4672 | ambiguous | -0.764 | Destabilizing | 0.999 | D | 0.869 | deleterious | D | 0.525213565 | None | None | N |
| S/H | 0.9925 | likely_pathogenic | 0.9921 | pathogenic | -1.294 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| S/I | 0.9868 | likely_pathogenic | 0.9834 | pathogenic | 0.236 | Stabilizing | 1.0 | D | 0.937 | deleterious | D | 0.564081874 | None | None | N |
| S/K | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.881 | Destabilizing | 0.999 | D | 0.883 | deleterious | None | None | None | None | N |
| S/L | 0.9404 | likely_pathogenic | 0.9316 | pathogenic | 0.236 | Stabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| S/M | 0.9729 | likely_pathogenic | 0.9669 | pathogenic | 0.417 | Stabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| S/N | 0.9741 | likely_pathogenic | 0.968 | pathogenic | -1.226 | Destabilizing | 0.999 | D | 0.889 | deleterious | D | 0.563828385 | None | None | N |
| S/P | 0.9919 | likely_pathogenic | 0.9913 | pathogenic | 0.036 | Stabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| S/Q | 0.9942 | likely_pathogenic | 0.994 | pathogenic | -1.285 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| S/R | 0.9982 | likely_pathogenic | 0.9978 | pathogenic | -0.857 | Destabilizing | 1.0 | D | 0.91 | deleterious | D | 0.544963661 | None | None | N |
| S/T | 0.6295 | likely_pathogenic | 0.5818 | pathogenic | -0.928 | Destabilizing | 0.999 | D | 0.886 | deleterious | N | 0.517843277 | None | None | N |
| S/V | 0.9653 | likely_pathogenic | 0.9563 | pathogenic | 0.036 | Stabilizing | 1.0 | D | 0.928 | deleterious | None | None | None | None | N |
| S/W | 0.995 | likely_pathogenic | 0.9945 | pathogenic | -0.641 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| S/Y | 0.9934 | likely_pathogenic | 0.9926 | pathogenic | -0.279 | Destabilizing | 1.0 | D | 0.936 | 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.