Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16180 | 48763;48764;48765 | chr2:178615407;178615406;178615405 | chr2:179480134;179480133;179480132 |
| N2AB | 14539 | 43840;43841;43842 | chr2:178615407;178615406;178615405 | chr2:179480134;179480133;179480132 |
| N2A | 13612 | 41059;41060;41061 | chr2:178615407;178615406;178615405 | chr2:179480134;179480133;179480132 |
| N2B | 7115 | 21568;21569;21570 | chr2:178615407;178615406;178615405 | chr2:179480134;179480133;179480132 |
| Novex-1 | 7240 | 21943;21944;21945 | chr2:178615407;178615406;178615405 | chr2:179480134;179480133;179480132 |
| Novex-2 | 7307 | 22144;22145;22146 | chr2:178615407;178615406;178615405 | chr2:179480134;179480133;179480132 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs759396669  |
0.116 | 0.999 | N | 0.705 | 0.42 | 0.444102476654 | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.28833E-04 | None | 0 | 0 | 0 |
| K/E | rs759396669 |
0.116 | 0.999 | N | 0.705 | 0.42 | 0.444102476654 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| K/E | rs759396669 |
0.116 | 0.999 | N | 0.705 | 0.42 | 0.444102476654 | gnomAD-4.0.0 | 1.41122E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.24921E-04 | 2.39716E-06 | 1.20673E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3478 | ambiguous | 0.3746 | ambiguous | 0.07 | Stabilizing | 0.999 | D | 0.68 | prob.neutral | None | None | None | None | N |
| K/C | 0.7211 | likely_pathogenic | 0.7351 | pathogenic | -0.019 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| K/D | 0.7532 | likely_pathogenic | 0.7671 | pathogenic | -0.081 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| K/E | 0.2425 | likely_benign | 0.2482 | benign | -0.071 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | N | 0.440908948 | None | None | N |
| K/F | 0.8527 | likely_pathogenic | 0.8647 | pathogenic | -0.049 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| K/G | 0.5168 | ambiguous | 0.5265 | ambiguous | -0.146 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| K/H | 0.4535 | ambiguous | 0.4856 | ambiguous | -0.421 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| K/I | 0.4089 | ambiguous | 0.4418 | ambiguous | 0.569 | Stabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.479808558 | None | None | N |
| K/L | 0.4041 | ambiguous | 0.4393 | ambiguous | 0.569 | Stabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| K/M | 0.3801 | ambiguous | 0.3976 | ambiguous | 0.304 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/N | 0.6251 | likely_pathogenic | 0.6492 | pathogenic | 0.341 | Stabilizing | 1.0 | D | 0.774 | deleterious | N | 0.484247863 | None | None | N |
| K/P | 0.6731 | likely_pathogenic | 0.6991 | pathogenic | 0.431 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| K/Q | 0.1708 | likely_benign | 0.1818 | benign | 0.165 | Stabilizing | 1.0 | D | 0.759 | deleterious | N | 0.484404051 | None | None | N |
| K/R | 0.082 | likely_benign | 0.0844 | benign | -0.015 | Destabilizing | 0.999 | D | 0.647 | neutral | N | 0.462788925 | None | None | N |
| K/S | 0.5256 | ambiguous | 0.5536 | ambiguous | -0.082 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | N |
| K/T | 0.2885 | likely_benign | 0.3096 | benign | 0.07 | Stabilizing | 1.0 | D | 0.724 | prob.delet. | N | 0.472611441 | None | None | N |
| K/V | 0.327 | likely_benign | 0.3506 | ambiguous | 0.431 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| K/W | 0.8326 | likely_pathogenic | 0.8313 | pathogenic | -0.075 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| K/Y | 0.7896 | likely_pathogenic | 0.797 | pathogenic | 0.256 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | 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.