Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15452 | 46579;46580;46581 | chr2:178620063;178620062;178620061 | chr2:179484790;179484789;179484788 |
| N2AB | 13811 | 41656;41657;41658 | chr2:178620063;178620062;178620061 | chr2:179484790;179484789;179484788 |
| N2A | 12884 | 38875;38876;38877 | chr2:178620063;178620062;178620061 | chr2:179484790;179484789;179484788 |
| N2B | 6387 | 19384;19385;19386 | chr2:178620063;178620062;178620061 | chr2:179484790;179484789;179484788 |
| Novex-1 | 6512 | 19759;19760;19761 | chr2:178620063;178620062;178620061 | chr2:179484790;179484789;179484788 |
| Novex-2 | 6579 | 19960;19961;19962 | chr2:178620063;178620062;178620061 | chr2:179484790;179484789;179484788 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs2058039119  |
None | 1.0 | D | 0.759 | 0.625 | 0.888152567264 | gnomAD-4.0.0 | 1.36991E-06 | None | None | None | None | N | None | 5.99233E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | None | None | 1.0 | D | 0.809 | 0.734 | 0.892143059017 | gnomAD-4.0.0 | 6.84955E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.6592E-05 |
| C/S | rs2058039119 |
None | 1.0 | N | 0.727 | 0.587 | 0.755270211524 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/S | rs2058039119 |
None | 1.0 | N | 0.727 | 0.587 | 0.755270211524 | gnomAD-4.0.0 | 6.58475E-06 | None | None | None | None | N | None | 2.41558E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.8372 | likely_pathogenic | 0.8021 | pathogenic | -0.874 | Destabilizing | 0.998 | D | 0.534 | neutral | None | None | None | None | N |
| C/D | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| C/E | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.632 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| C/F | 0.9811 | likely_pathogenic | 0.987 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.610631646 | None | None | N |
| C/G | 0.8765 | likely_pathogenic | 0.863 | pathogenic | -1.123 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.650996936 | None | None | N |
| C/H | 0.9982 | likely_pathogenic | 0.9985 | pathogenic | -1.778 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| C/I | 0.9021 | likely_pathogenic | 0.9141 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| C/K | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| C/L | 0.8995 | likely_pathogenic | 0.9122 | pathogenic | -0.263 | Destabilizing | 0.999 | D | 0.611 | neutral | None | None | None | None | N |
| C/M | 0.9738 | likely_pathogenic | 0.9764 | pathogenic | 0.245 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| C/N | 0.9917 | likely_pathogenic | 0.9923 | pathogenic | -1.198 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| C/P | 0.9958 | likely_pathogenic | 0.9972 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| C/Q | 0.9983 | likely_pathogenic | 0.9986 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| C/R | 0.995 | likely_pathogenic | 0.9967 | pathogenic | -1.043 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.650996936 | None | None | N |
| C/S | 0.9007 | likely_pathogenic | 0.8725 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.503879027 | None | None | N |
| C/T | 0.8204 | likely_pathogenic | 0.8451 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| C/V | 0.7179 | likely_pathogenic | 0.7563 | pathogenic | -0.442 | Destabilizing | 0.999 | D | 0.673 | neutral | None | None | None | None | N |
| C/W | 0.9982 | likely_pathogenic | 0.9987 | pathogenic | -1.382 | Destabilizing | 1.0 | D | 0.764 | deleterious | D | 0.65218347 | None | None | N |
| C/Y | 0.9959 | likely_pathogenic | 0.9972 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.650996936 | 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.