Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32272 | 97039;97040;97041 | chr2:178543159;178543158;178543157 | chr2:179407886;179407885;179407884 |
| N2AB | 30631 | 92116;92117;92118 | chr2:178543159;178543158;178543157 | chr2:179407886;179407885;179407884 |
| N2A | 29704 | 89335;89336;89337 | chr2:178543159;178543158;178543157 | chr2:179407886;179407885;179407884 |
| N2B | 23207 | 69844;69845;69846 | chr2:178543159;178543158;178543157 | chr2:179407886;179407885;179407884 |
| Novex-1 | 23332 | 70219;70220;70221 | chr2:178543159;178543158;178543157 | chr2:179407886;179407885;179407884 |
| Novex-2 | 23399 | 70420;70421;70422 | chr2:178543159;178543158;178543157 | chr2:179407886;179407885;179407884 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | None | None | 0.949 | N | 0.601 | 0.293 | 0.223146558224 | gnomAD-4.0.0 | 1.59185E-06 | None | None | None | None | N | None | 0 | 2.28645E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | None | None | 0.722 | N | 0.567 | 0.218 | 0.176091768786 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2345 | likely_benign | 0.2004 | benign | -0.735 | Destabilizing | 0.633 | D | 0.629 | neutral | None | None | None | None | N |
| Q/C | 0.7163 | likely_pathogenic | 0.68 | pathogenic | -0.106 | Destabilizing | 0.996 | D | 0.779 | deleterious | None | None | None | None | N |
| Q/D | 0.4456 | ambiguous | 0.3993 | ambiguous | -0.515 | Destabilizing | 0.633 | D | 0.555 | neutral | None | None | None | None | N |
| Q/E | 0.0939 | likely_benign | 0.0855 | benign | -0.393 | Destabilizing | 0.003 | N | 0.133 | neutral | N | 0.370350076 | None | None | N |
| Q/F | 0.8289 | likely_pathogenic | 0.8109 | pathogenic | -0.351 | Destabilizing | 0.987 | D | 0.766 | deleterious | None | None | None | None | N |
| Q/G | 0.3633 | ambiguous | 0.3131 | benign | -1.113 | Destabilizing | 0.775 | D | 0.67 | neutral | None | None | None | None | N |
| Q/H | 0.3287 | likely_benign | 0.2922 | benign | -0.852 | Destabilizing | 0.949 | D | 0.601 | neutral | N | 0.472623006 | None | None | N |
| Q/I | 0.4178 | ambiguous | 0.3868 | ambiguous | 0.24 | Stabilizing | 0.961 | D | 0.773 | deleterious | None | None | None | None | N |
| Q/K | 0.12 | likely_benign | 0.1111 | benign | -0.318 | Destabilizing | 0.349 | N | 0.591 | neutral | N | 0.436228352 | None | None | N |
| Q/L | 0.1879 | likely_benign | 0.1649 | benign | 0.24 | Stabilizing | 0.722 | D | 0.669 | neutral | N | 0.486638529 | None | None | N |
| Q/M | 0.4044 | ambiguous | 0.3775 | ambiguous | 0.626 | Stabilizing | 0.987 | D | 0.594 | neutral | None | None | None | None | N |
| Q/N | 0.3286 | likely_benign | 0.3046 | benign | -0.93 | Destabilizing | 0.775 | D | 0.535 | neutral | None | None | None | None | N |
| Q/P | 0.178 | likely_benign | 0.1458 | benign | -0.054 | Destabilizing | 0.949 | D | 0.678 | prob.neutral | N | 0.482328788 | None | None | N |
| Q/R | 0.1475 | likely_benign | 0.135 | benign | -0.276 | Destabilizing | 0.722 | D | 0.567 | neutral | N | 0.454680826 | None | None | N |
| Q/S | 0.2615 | likely_benign | 0.2368 | benign | -1.075 | Destabilizing | 0.633 | D | 0.534 | neutral | None | None | None | None | N |
| Q/T | 0.1808 | likely_benign | 0.1591 | benign | -0.747 | Destabilizing | 0.775 | D | 0.64 | neutral | None | None | None | None | N |
| Q/V | 0.2578 | likely_benign | 0.2319 | benign | -0.054 | Destabilizing | 0.923 | D | 0.683 | prob.neutral | None | None | None | None | N |
| Q/W | 0.7218 | likely_pathogenic | 0.7004 | pathogenic | -0.194 | Destabilizing | 0.996 | D | 0.78 | deleterious | None | None | None | None | N |
| Q/Y | 0.6081 | likely_pathogenic | 0.5866 | pathogenic | 0.028 | Stabilizing | 0.987 | D | 0.73 | prob.delet. | 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.