Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31895 | 95908;95909;95910 | chr2:178545427;178545426;178545425 | chr2:179410154;179410153;179410152 |
| N2AB | 30254 | 90985;90986;90987 | chr2:178545427;178545426;178545425 | chr2:179410154;179410153;179410152 |
| N2A | 29327 | 88204;88205;88206 | chr2:178545427;178545426;178545425 | chr2:179410154;179410153;179410152 |
| N2B | 22830 | 68713;68714;68715 | chr2:178545427;178545426;178545425 | chr2:179410154;179410153;179410152 |
| Novex-1 | 22955 | 69088;69089;69090 | chr2:178545427;178545426;178545425 | chr2:179410154;179410153;179410152 |
| Novex-2 | 23022 | 69289;69290;69291 | chr2:178545427;178545426;178545425 | chr2:179410154;179410153;179410152 |
| 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/G | rs775090787  |
-1.847 | 0.999 | D | 0.839 | 0.646 | 0.47185959272 | gnomAD-2.1.1 | 8.2E-06 | None | None | None | None | N | None | 0 | 2.95E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.69779E-04 |
| S/G | rs775090787 |
-1.847 | 0.999 | D | 0.839 | 0.646 | 0.47185959272 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/G | rs775090787 |
-1.847 | 0.999 | D | 0.839 | 0.646 | 0.47185959272 | gnomAD-4.0.0 | 2.49938E-06 | None | None | None | None | N | None | 2.68327E-05 | 1.68793E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.61697E-05 |
| S/R | rs771633297 |
-0.849 | 1.0 | D | 0.815 | 0.699 | 0.166414681773 | gnomAD-2.1.1 | 4.11E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs771633297 |
-0.849 | 1.0 | D | 0.815 | 0.699 | 0.166414681773 | gnomAD-4.0.0 | 4.147E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.44705E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.4656 | ambiguous | 0.3514 | ambiguous | -0.798 | Destabilizing | 0.998 | D | 0.812 | deleterious | None | None | None | None | N |
| S/C | 0.5297 | ambiguous | 0.4591 | ambiguous | -0.786 | Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.574134733 | None | None | N |
| S/D | 0.992 | likely_pathogenic | 0.9927 | pathogenic | -1.332 | Destabilizing | 0.999 | D | 0.845 | deleterious | None | None | None | None | N |
| S/E | 0.9941 | likely_pathogenic | 0.9943 | pathogenic | -1.253 | Destabilizing | 0.999 | D | 0.835 | deleterious | None | None | None | None | N |
| S/F | 0.9934 | likely_pathogenic | 0.9899 | pathogenic | -0.668 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| S/G | 0.473 | ambiguous | 0.3744 | ambiguous | -1.111 | Destabilizing | 0.999 | D | 0.839 | deleterious | D | 0.534759445 | None | None | N |
| S/H | 0.9919 | likely_pathogenic | 0.9915 | pathogenic | -1.505 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| S/I | 0.9736 | likely_pathogenic | 0.9615 | pathogenic | -0.045 | Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.573627754 | None | None | N |
| S/K | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -0.9 | Destabilizing | 0.999 | D | 0.841 | deleterious | None | None | None | None | N |
| S/L | 0.8747 | likely_pathogenic | 0.8394 | pathogenic | -0.045 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| S/M | 0.9465 | likely_pathogenic | 0.9297 | pathogenic | 0.074 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| S/N | 0.9649 | likely_pathogenic | 0.9615 | pathogenic | -1.168 | Destabilizing | 0.999 | D | 0.847 | deleterious | D | 0.573374264 | None | None | N |
| S/P | 0.9888 | likely_pathogenic | 0.9896 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| S/Q | 0.9918 | likely_pathogenic | 0.9909 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| S/R | 0.9977 | likely_pathogenic | 0.997 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.554674125 | None | None | N |
| S/T | 0.4318 | ambiguous | 0.4377 | ambiguous | -0.983 | Destabilizing | 0.999 | D | 0.857 | deleterious | N | 0.521464128 | None | None | N |
| S/V | 0.9286 | likely_pathogenic | 0.8992 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| S/W | 0.9944 | likely_pathogenic | 0.993 | pathogenic | -0.767 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| S/Y | 0.9914 | likely_pathogenic | 0.9896 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.867 | 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.