Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22467 | 67624;67625;67626 | chr2:178579798;178579797;178579796 | chr2:179444525;179444524;179444523 |
| N2AB | 20826 | 62701;62702;62703 | chr2:178579798;178579797;178579796 | chr2:179444525;179444524;179444523 |
| N2A | 19899 | 59920;59921;59922 | chr2:178579798;178579797;178579796 | chr2:179444525;179444524;179444523 |
| N2B | 13402 | 40429;40430;40431 | chr2:178579798;178579797;178579796 | chr2:179444525;179444524;179444523 |
| Novex-1 | 13527 | 40804;40805;40806 | chr2:178579798;178579797;178579796 | chr2:179444525;179444524;179444523 |
| Novex-2 | 13594 | 41005;41006;41007 | chr2:178579798;178579797;178579796 | chr2:179444525;179444524;179444523 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | None | None | 0.938 | N | 0.685 | 0.319 | 0.617388661746 | gnomAD-4.0.0 | 1.59227E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86026E-06 | 0 | 0 |
| S/P | rs1470231213  |
None | 0.984 | D | 0.645 | 0.462 | 0.44770609447 | gnomAD-4.0.0 | 6.8439E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99661E-07 | 0 | 0 |
| S/T | None | None | 0.103 | N | 0.31 | 0.22 | 0.232513804876 | gnomAD-4.0.0 | 6.8439E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99661E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1095 | likely_benign | 0.1057 | benign | -0.588 | Destabilizing | 0.026 | N | 0.169 | neutral | N | 0.483874996 | None | None | N |
| S/C | 0.1567 | likely_benign | 0.144 | benign | -0.669 | Destabilizing | 0.999 | D | 0.639 | neutral | N | 0.494296703 | None | None | N |
| S/D | 0.548 | ambiguous | 0.4966 | ambiguous | -1.038 | Destabilizing | 0.959 | D | 0.498 | neutral | None | None | None | None | N |
| S/E | 0.5835 | likely_pathogenic | 0.549 | ambiguous | -1.083 | Destabilizing | 0.919 | D | 0.502 | neutral | None | None | None | None | N |
| S/F | 0.1889 | likely_benign | 0.1715 | benign | -1.308 | Destabilizing | 0.938 | D | 0.685 | prob.neutral | N | 0.491574451 | None | None | N |
| S/G | 0.1485 | likely_benign | 0.1448 | benign | -0.699 | Destabilizing | 0.851 | D | 0.459 | neutral | None | None | None | None | N |
| S/H | 0.3544 | ambiguous | 0.3172 | benign | -1.339 | Destabilizing | 0.988 | D | 0.657 | neutral | None | None | None | None | N |
| S/I | 0.2606 | likely_benign | 0.2312 | benign | -0.403 | Destabilizing | 0.976 | D | 0.665 | neutral | None | None | None | None | N |
| S/K | 0.7993 | likely_pathogenic | 0.7728 | pathogenic | -0.529 | Destabilizing | 0.919 | D | 0.507 | neutral | None | None | None | None | N |
| S/L | 0.1504 | likely_benign | 0.1366 | benign | -0.403 | Destabilizing | 0.919 | D | 0.585 | neutral | None | None | None | None | N |
| S/M | 0.2703 | likely_benign | 0.2311 | benign | 0.052 | Stabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| S/N | 0.2463 | likely_benign | 0.2071 | benign | -0.577 | Destabilizing | 0.959 | D | 0.509 | neutral | None | None | None | None | N |
| S/P | 0.9609 | likely_pathogenic | 0.9695 | pathogenic | -0.44 | Destabilizing | 0.984 | D | 0.645 | neutral | D | 0.523668358 | None | None | N |
| S/Q | 0.5514 | ambiguous | 0.5108 | ambiguous | -0.97 | Destabilizing | 0.988 | D | 0.551 | neutral | None | None | None | None | N |
| S/R | 0.7101 | likely_pathogenic | 0.6972 | pathogenic | -0.299 | Destabilizing | 0.988 | D | 0.645 | neutral | None | None | None | None | N |
| S/T | 0.0895 | likely_benign | 0.0829 | benign | -0.539 | Destabilizing | 0.103 | N | 0.31 | neutral | N | 0.500208046 | None | None | N |
| S/V | 0.2373 | likely_benign | 0.2128 | benign | -0.44 | Destabilizing | 0.851 | D | 0.588 | neutral | None | None | None | None | N |
| S/W | 0.3826 | ambiguous | 0.3916 | ambiguous | -1.31 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| S/Y | 0.2167 | likely_benign | 0.2049 | benign | -0.967 | Destabilizing | 0.211 | N | 0.379 | neutral | N | 0.494510512 | 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.