Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31780 | 95563;95564;95565 | chr2:178545898;178545897;178545896 | chr2:179410625;179410624;179410623 |
| N2AB | 30139 | 90640;90641;90642 | chr2:178545898;178545897;178545896 | chr2:179410625;179410624;179410623 |
| N2A | 29212 | 87859;87860;87861 | chr2:178545898;178545897;178545896 | chr2:179410625;179410624;179410623 |
| N2B | 22715 | 68368;68369;68370 | chr2:178545898;178545897;178545896 | chr2:179410625;179410624;179410623 |
| Novex-1 | 22840 | 68743;68744;68745 | chr2:178545898;178545897;178545896 | chr2:179410625;179410624;179410623 |
| Novex-2 | 22907 | 68944;68945;68946 | chr2:178545898;178545897;178545896 | chr2:179410625;179410624;179410623 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/C | rs1696875038  |
None | 1.0 | D | 0.845 | 0.717 | 0.877205771031 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/C | rs1696875038 |
None | 1.0 | D | 0.845 | 0.717 | 0.877205771031 | gnomAD-4.0.0 | 6.57073E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46998E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9944 | likely_pathogenic | 0.9937 | pathogenic | -2.101 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| F/C | 0.9493 | likely_pathogenic | 0.9327 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.568533694 | None | None | N |
| F/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.048 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| F/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.797 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| F/G | 0.9975 | likely_pathogenic | 0.9975 | pathogenic | -2.569 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| F/H | 0.9956 | likely_pathogenic | 0.9958 | pathogenic | -1.765 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| F/I | 0.8724 | likely_pathogenic | 0.8451 | pathogenic | -0.573 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.517202534 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.942 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| F/L | 0.9777 | likely_pathogenic | 0.9751 | pathogenic | -0.573 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | N | 0.519622071 | None | None | N |
| F/M | 0.9444 | likely_pathogenic | 0.9321 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| F/N | 0.999 | likely_pathogenic | 0.999 | pathogenic | -2.692 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| F/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| F/Q | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.405 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| F/R | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -1.959 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| F/S | 0.9959 | likely_pathogenic | 0.9956 | pathogenic | -3.107 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.568533694 | None | None | N |
| F/T | 0.9959 | likely_pathogenic | 0.9953 | pathogenic | -2.724 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| F/V | 0.8778 | likely_pathogenic | 0.8532 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.77 | deleterious | N | 0.49266259 | None | None | N |
| F/W | 0.9543 | likely_pathogenic | 0.9517 | pathogenic | -0.137 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| F/Y | 0.8052 | likely_pathogenic | 0.8046 | pathogenic | -0.472 | Destabilizing | 0.999 | D | 0.601 | neutral | N | 0.518713926 | 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.