Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29907 | 89944;89945;89946 | chr2:178553181;178553180;178553179 | chr2:179417908;179417907;179417906 |
| N2AB | 28266 | 85021;85022;85023 | chr2:178553181;178553180;178553179 | chr2:179417908;179417907;179417906 |
| N2A | 27339 | 82240;82241;82242 | chr2:178553181;178553180;178553179 | chr2:179417908;179417907;179417906 |
| N2B | 20842 | 62749;62750;62751 | chr2:178553181;178553180;178553179 | chr2:179417908;179417907;179417906 |
| Novex-1 | 20967 | 63124;63125;63126 | chr2:178553181;178553180;178553179 | chr2:179417908;179417907;179417906 |
| Novex-2 | 21034 | 63325;63326;63327 | chr2:178553181;178553180;178553179 | chr2:179417908;179417907;179417906 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs762852359  |
-0.25 | 0.997 | N | 0.659 | 0.351 | 0.532938547298 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 1.65673E-04 |
| T/I | rs762852359 |
-0.25 | 0.997 | N | 0.659 | 0.351 | 0.532938547298 | gnomAD-4.0.0 | 7.95626E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57417E-06 | 2.8659E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0962 | likely_benign | 0.0958 | benign | -0.852 | Destabilizing | 0.953 | D | 0.583 | neutral | N | 0.397683898 | None | None | N |
| T/C | 0.5043 | ambiguous | 0.4581 | ambiguous | -0.538 | Destabilizing | 0.171 | N | 0.318 | neutral | None | None | None | None | N |
| T/D | 0.7713 | likely_pathogenic | 0.7021 | pathogenic | -0.439 | Destabilizing | 0.998 | D | 0.651 | neutral | None | None | None | None | N |
| T/E | 0.665 | likely_pathogenic | 0.6051 | pathogenic | -0.443 | Destabilizing | 0.996 | D | 0.639 | neutral | None | None | None | None | N |
| T/F | 0.5928 | likely_pathogenic | 0.4978 | ambiguous | -0.99 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| T/G | 0.292 | likely_benign | 0.2621 | benign | -1.099 | Destabilizing | 0.993 | D | 0.624 | neutral | None | None | None | None | N |
| T/H | 0.4524 | ambiguous | 0.4108 | ambiguous | -1.413 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| T/I | 0.5769 | likely_pathogenic | 0.5352 | ambiguous | -0.283 | Destabilizing | 0.997 | D | 0.659 | neutral | N | 0.493632502 | None | None | N |
| T/K | 0.4478 | ambiguous | 0.4142 | ambiguous | -0.76 | Destabilizing | 0.961 | D | 0.583 | neutral | D | 0.533499474 | None | None | N |
| T/L | 0.2977 | likely_benign | 0.2503 | benign | -0.283 | Destabilizing | 0.985 | D | 0.581 | neutral | None | None | None | None | N |
| T/M | 0.1489 | likely_benign | 0.1407 | benign | 0.122 | Stabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| T/N | 0.2743 | likely_benign | 0.2383 | benign | -0.732 | Destabilizing | 0.998 | D | 0.545 | neutral | None | None | None | None | N |
| T/P | 0.6653 | likely_pathogenic | 0.6466 | pathogenic | -0.441 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | N | 0.493632502 | None | None | N |
| T/Q | 0.4185 | ambiguous | 0.3878 | ambiguous | -0.949 | Destabilizing | 0.998 | D | 0.693 | prob.neutral | None | None | None | None | N |
| T/R | 0.3403 | ambiguous | 0.3006 | benign | -0.492 | Destabilizing | 0.606 | D | 0.323 | neutral | N | 0.494674514 | None | None | N |
| T/S | 0.1185 | likely_benign | 0.1042 | benign | -1.0 | Destabilizing | 0.99 | D | 0.564 | neutral | N | 0.393219441 | None | None | N |
| T/V | 0.3998 | ambiguous | 0.3662 | ambiguous | -0.441 | Destabilizing | 0.985 | D | 0.511 | neutral | None | None | None | None | N |
| T/W | 0.8724 | likely_pathogenic | 0.8252 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| T/Y | 0.5838 | likely_pathogenic | 0.5115 | ambiguous | -0.674 | Destabilizing | 0.999 | D | 0.737 | 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.