Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19201 | 57826;57827;57828 | chr2:178595753;178595752;178595751 | chr2:179460480;179460479;179460478 |
| N2AB | 17560 | 52903;52904;52905 | chr2:178595753;178595752;178595751 | chr2:179460480;179460479;179460478 |
| N2A | 16633 | 50122;50123;50124 | chr2:178595753;178595752;178595751 | chr2:179460480;179460479;179460478 |
| N2B | 10136 | 30631;30632;30633 | chr2:178595753;178595752;178595751 | chr2:179460480;179460479;179460478 |
| Novex-1 | 10261 | 31006;31007;31008 | chr2:178595753;178595752;178595751 | chr2:179460480;179460479;179460478 |
| Novex-2 | 10328 | 31207;31208;31209 | chr2:178595753;178595752;178595751 | chr2:179460480;179460479;179460478 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs1408812276  |
-1.563 | 1.0 | N | 0.83 | 0.548 | 0.710817242137 | gnomAD-2.1.1 | 2.9E-05 | None | None | None | None | N | None | 0 | 2.07592E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/G | rs1408812276 |
-1.563 | 1.0 | N | 0.83 | 0.548 | 0.710817242137 | gnomAD-4.0.0 | 5.49103E-06 | None | None | None | None | N | None | 0 | 1.81069E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | None | None | 1.0 | N | 0.867 | 0.583 | 0.67908001117 | gnomAD-4.0.0 | 2.74551E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60411E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.6576 | likely_pathogenic | 0.6988 | pathogenic | -1.749 | Destabilizing | 0.998 | D | 0.618 | neutral | None | None | None | None | N |
| C/D | 0.9982 | likely_pathogenic | 0.9989 | pathogenic | -1.509 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| C/E | 0.9983 | likely_pathogenic | 0.999 | pathogenic | -1.255 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| C/F | 0.7445 | likely_pathogenic | 0.8245 | pathogenic | -1.174 | Destabilizing | 1.0 | D | 0.859 | deleterious | N | 0.462388655 | None | None | N |
| C/G | 0.6764 | likely_pathogenic | 0.742 | pathogenic | -2.134 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | N | 0.493370152 | None | None | N |
| C/H | 0.9914 | likely_pathogenic | 0.9951 | pathogenic | -2.374 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| C/I | 0.6281 | likely_pathogenic | 0.676 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| C/K | 0.9987 | likely_pathogenic | 0.9992 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| C/L | 0.63 | likely_pathogenic | 0.6963 | pathogenic | -0.7 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| C/M | 0.8448 | likely_pathogenic | 0.8785 | pathogenic | 0.096 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| C/N | 0.9874 | likely_pathogenic | 0.9916 | pathogenic | -1.722 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| C/P | 0.9978 | likely_pathogenic | 0.9986 | pathogenic | -1.026 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| C/Q | 0.9924 | likely_pathogenic | 0.9955 | pathogenic | -1.219 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| C/R | 0.9874 | likely_pathogenic | 0.9925 | pathogenic | -1.517 | Destabilizing | 1.0 | D | 0.867 | deleterious | N | 0.49438411 | None | None | N |
| C/S | 0.7913 | likely_pathogenic | 0.8431 | pathogenic | -2.041 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.464416571 | None | None | N |
| C/T | 0.8365 | likely_pathogenic | 0.8634 | pathogenic | -1.578 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| C/V | 0.4643 | ambiguous | 0.4864 | ambiguous | -1.026 | Destabilizing | 0.999 | D | 0.762 | deleterious | None | None | None | None | N |
| C/W | 0.9728 | likely_pathogenic | 0.9846 | pathogenic | -1.532 | Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.471506915 | None | None | N |
| C/Y | 0.9403 | likely_pathogenic | 0.9628 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.875 | deleterious | N | 0.482356242 | 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.