Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31857 | 95794;95795;95796 | chr2:178545541;178545540;178545539 | chr2:179410268;179410267;179410266 |
| N2AB | 30216 | 90871;90872;90873 | chr2:178545541;178545540;178545539 | chr2:179410268;179410267;179410266 |
| N2A | 29289 | 88090;88091;88092 | chr2:178545541;178545540;178545539 | chr2:179410268;179410267;179410266 |
| N2B | 22792 | 68599;68600;68601 | chr2:178545541;178545540;178545539 | chr2:179410268;179410267;179410266 |
| Novex-1 | 22917 | 68974;68975;68976 | chr2:178545541;178545540;178545539 | chr2:179410268;179410267;179410266 |
| Novex-2 | 22984 | 69175;69176;69177 | chr2:178545541;178545540;178545539 | chr2:179410268;179410267;179410266 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1696670937  |
None | 0.999 | N | 0.595 | 0.428 | 0.481246930725 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs1696670937 |
None | 0.999 | N | 0.595 | 0.428 | 0.481246930725 | gnomAD-4.0.0 | 3.8438E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78696E-06 | 0 | 2.84479E-05 |
| V/I | None | None | 0.997 | N | 0.492 | 0.262 | 0.438913950225 | gnomAD-4.0.0 | 1.59146E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85887E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4799 | ambiguous | 0.5107 | ambiguous | -1.868 | Destabilizing | 0.999 | D | 0.595 | neutral | N | 0.455027543 | None | None | I |
| V/C | 0.7999 | likely_pathogenic | 0.8126 | pathogenic | -1.256 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| V/D | 0.9741 | likely_pathogenic | 0.9758 | pathogenic | -1.988 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.523403825 | None | None | I |
| V/E | 0.9198 | likely_pathogenic | 0.9238 | pathogenic | -1.866 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | I |
| V/F | 0.6062 | likely_pathogenic | 0.5732 | pathogenic | -1.238 | Destabilizing | 1.0 | D | 0.77 | deleterious | N | 0.476266629 | None | None | I |
| V/G | 0.7485 | likely_pathogenic | 0.7564 | pathogenic | -2.318 | Highly Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.482675865 | None | None | I |
| V/H | 0.9713 | likely_pathogenic | 0.971 | pathogenic | -1.903 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| V/I | 0.1007 | likely_benign | 0.0932 | benign | -0.666 | Destabilizing | 0.997 | D | 0.492 | neutral | N | 0.505512291 | None | None | I |
| V/K | 0.9528 | likely_pathogenic | 0.9578 | pathogenic | -1.597 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | I |
| V/L | 0.5414 | ambiguous | 0.487 | ambiguous | -0.666 | Destabilizing | 0.997 | D | 0.569 | neutral | N | 0.49466058 | None | None | I |
| V/M | 0.4337 | ambiguous | 0.405 | ambiguous | -0.503 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| V/N | 0.9066 | likely_pathogenic | 0.9107 | pathogenic | -1.634 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| V/P | 0.97 | likely_pathogenic | 0.9743 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| V/Q | 0.9061 | likely_pathogenic | 0.9101 | pathogenic | -1.636 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| V/R | 0.9361 | likely_pathogenic | 0.9397 | pathogenic | -1.2 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| V/S | 0.765 | likely_pathogenic | 0.7753 | pathogenic | -2.242 | Highly Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| V/T | 0.6236 | likely_pathogenic | 0.6459 | pathogenic | -1.989 | Destabilizing | 0.999 | D | 0.581 | neutral | None | None | None | None | I |
| V/W | 0.9832 | likely_pathogenic | 0.9794 | pathogenic | -1.617 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| V/Y | 0.9292 | likely_pathogenic | 0.9288 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
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.