Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30009 | 90250;90251;90252 | chr2:178552875;178552874;178552873 | chr2:179417602;179417601;179417600 |
| N2AB | 28368 | 85327;85328;85329 | chr2:178552875;178552874;178552873 | chr2:179417602;179417601;179417600 |
| N2A | 27441 | 82546;82547;82548 | chr2:178552875;178552874;178552873 | chr2:179417602;179417601;179417600 |
| N2B | 20944 | 63055;63056;63057 | chr2:178552875;178552874;178552873 | chr2:179417602;179417601;179417600 |
| Novex-1 | 21069 | 63430;63431;63432 | chr2:178552875;178552874;178552873 | chr2:179417602;179417601;179417600 |
| Novex-2 | 21136 | 63631;63632;63633 | chr2:178552875;178552874;178552873 | chr2:179417602;179417601;179417600 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | None | None | 1.0 | D | 0.8 | 0.764 | 0.647012125924 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9061 | likely_pathogenic | 0.9116 | pathogenic | -1.966 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/D | 0.9981 | likely_pathogenic | 0.9982 | pathogenic | -3.082 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/E | 0.9958 | likely_pathogenic | 0.9962 | pathogenic | -2.866 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.657341629 | None | None | N |
| A/F | 0.9942 | likely_pathogenic | 0.9947 | pathogenic | -0.9 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| A/G | 0.3355 | likely_benign | 0.3313 | benign | -2.273 | Highly Destabilizing | 1.0 | D | 0.621 | neutral | D | 0.576993018 | None | None | N |
| A/H | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -2.125 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| A/I | 0.9884 | likely_pathogenic | 0.99 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/K | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -1.577 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/L | 0.9357 | likely_pathogenic | 0.9459 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/M | 0.9794 | likely_pathogenic | 0.9821 | pathogenic | -1.251 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/N | 0.9945 | likely_pathogenic | 0.9953 | pathogenic | -2.028 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/P | 0.5213 | ambiguous | 0.5985 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.599129022 | None | None | N |
| A/Q | 0.9915 | likely_pathogenic | 0.9921 | pathogenic | -1.811 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| A/R | 0.9943 | likely_pathogenic | 0.9952 | pathogenic | -1.574 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| A/S | 0.476 | ambiguous | 0.47 | ambiguous | -2.374 | Highly Destabilizing | 1.0 | D | 0.612 | neutral | D | 0.592406966 | None | None | N |
| A/T | 0.9087 | likely_pathogenic | 0.9136 | pathogenic | -2.053 | Highly Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.640515051 | None | None | N |
| A/V | 0.9295 | likely_pathogenic | 0.9356 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | D | 0.630390888 | None | None | N |
| A/W | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.488 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| A/Y | 0.9974 | likely_pathogenic | 0.9977 | pathogenic | -1.181 | Destabilizing | 1.0 | D | 0.875 | deleterious | 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.