Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32781 | 98566;98567;98568 | chr2:178539724;178539723;178539722 | chr2:179404451;179404450;179404449 |
| N2AB | 31140 | 93643;93644;93645 | chr2:178539724;178539723;178539722 | chr2:179404451;179404450;179404449 |
| N2A | 30213 | 90862;90863;90864 | chr2:178539724;178539723;178539722 | chr2:179404451;179404450;179404449 |
| N2B | 23716 | 71371;71372;71373 | chr2:178539724;178539723;178539722 | chr2:179404451;179404450;179404449 |
| Novex-1 | 23841 | 71746;71747;71748 | chr2:178539724;178539723;178539722 | chr2:179404451;179404450;179404449 |
| Novex-2 | 23908 | 71947;71948;71949 | chr2:178539724;178539723;178539722 | chr2:179404451;179404450;179404449 |
| 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/R | rs562178341  |
0.571 | 1.0 | N | 0.741 | 0.5 | 0.507031862817 | gnomAD-2.1.1 | 2.49539E-04 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.96078E-03 | None | 0 | 1.78E-05 | 0 |
| C/R | rs562178341 |
0.571 | 1.0 | N | 0.741 | 0.5 | 0.507031862817 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 1.24533E-03 | 0 |
| C/R | rs562178341 |
0.571 | 1.0 | N | 0.741 | 0.5 | 0.507031862817 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| C/R | rs562178341 |
0.571 | 1.0 | N | 0.741 | 0.5 | 0.507031862817 | gnomAD-4.0.0 | 1.20223E-04 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39045E-06 | 2.03136E-03 | 8.00359E-05 |
| C/Y | rs1252559965 |
None | 1.0 | N | 0.741 | 0.355 | 0.54823119731 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| C/Y | rs1252559965 |
None | 1.0 | N | 0.741 | 0.355 | 0.54823119731 | gnomAD-4.0.0 | 8.96764E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.67512E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5742 | likely_pathogenic | 0.5619 | ambiguous | -0.408 | Destabilizing | 0.998 | D | 0.574 | neutral | None | None | None | None | I |
| C/D | 0.9549 | likely_pathogenic | 0.9591 | pathogenic | 0.273 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| C/E | 0.9632 | likely_pathogenic | 0.9673 | pathogenic | 0.216 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| C/F | 0.4712 | ambiguous | 0.4981 | ambiguous | -0.615 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.38201736 | None | None | I |
| C/G | 0.402 | ambiguous | 0.4089 | ambiguous | -0.47 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | N | 0.439577222 | None | None | I |
| C/H | 0.8262 | likely_pathogenic | 0.8487 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | I |
| C/I | 0.7941 | likely_pathogenic | 0.7928 | pathogenic | -0.335 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| C/K | 0.9666 | likely_pathogenic | 0.9709 | pathogenic | 0.112 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| C/L | 0.7254 | likely_pathogenic | 0.7377 | pathogenic | -0.335 | Destabilizing | 0.999 | D | 0.627 | neutral | None | None | None | None | I |
| C/M | 0.8077 | likely_pathogenic | 0.8142 | pathogenic | -0.078 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | I |
| C/N | 0.7941 | likely_pathogenic | 0.8085 | pathogenic | 0.423 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| C/P | 0.9889 | likely_pathogenic | 0.989 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| C/Q | 0.8961 | likely_pathogenic | 0.9047 | pathogenic | 0.245 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| C/R | 0.8504 | likely_pathogenic | 0.6766 | pathogenic | 0.451 | Stabilizing | 1.0 | D | 0.741 | deleterious | N | 0.444431255 | None | None | I |
| C/S | 0.5176 | ambiguous | 0.5153 | ambiguous | 0.026 | Stabilizing | 1.0 | D | 0.656 | neutral | N | 0.377915475 | None | None | I |
| C/T | 0.7498 | likely_pathogenic | 0.7571 | pathogenic | 0.061 | Stabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | I |
| C/V | 0.6343 | likely_pathogenic | 0.6328 | pathogenic | -0.341 | Destabilizing | 0.999 | D | 0.636 | neutral | None | None | None | None | I |
| C/W | 0.7839 | likely_pathogenic | 0.8048 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.744 | deleterious | N | 0.456168401 | None | None | I |
| C/Y | 0.5476 | ambiguous | 0.5794 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.376283466 | 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.