Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4677 | 14254;14255;14256 | chr2:178739204;178739203;178739202 | chr2:179603931;179603930;179603929 |
| N2AB | 4360 | 13303;13304;13305 | chr2:178739204;178739203;178739202 | chr2:179603931;179603930;179603929 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 4314 | 13165;13166;13167 | chr2:178739204;178739203;178739202 | chr2:179603931;179603930;179603929 |
| Novex-1 | 4439 | 13540;13541;13542 | chr2:178739204;178739203;178739202 | chr2:179603931;179603930;179603929 |
| Novex-2 | 4506 | 13741;13742;13743 | chr2:178739204;178739203;178739202 | chr2:179603931;179603930;179603929 |
| 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/R | None | None | 1.0 | D | 0.92 | 0.762 | None | gnomAD-4.0.0 | 1.43192E-06 | None | None | None | None | N | None | 6.30398E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/S | None | None | 1.0 | D | 0.817 | 0.766 | None | gnomAD-4.0.0 | 1.43192E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.85561E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7523 | likely_pathogenic | 0.7809 | pathogenic | -1.502 | Destabilizing | 0.998 | D | 0.718 | prob.delet. | None | None | None | None | N |
| C/D | 0.9978 | likely_pathogenic | 0.9984 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| C/E | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | -1.196 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| C/F | 0.6925 | likely_pathogenic | 0.7143 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.706800385 | None | None | N |
| C/G | 0.6392 | likely_pathogenic | 0.6758 | pathogenic | -1.892 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.746459092 | None | None | N |
| C/H | 0.9916 | likely_pathogenic | 0.9932 | pathogenic | -2.094 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| C/I | 0.784 | likely_pathogenic | 0.7885 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| C/K | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | -0.926 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| C/L | 0.7058 | likely_pathogenic | 0.6958 | pathogenic | -0.442 | Destabilizing | 0.999 | D | 0.775 | deleterious | None | None | None | None | N |
| C/M | 0.9059 | likely_pathogenic | 0.906 | pathogenic | 0.37 | Stabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| C/N | 0.9894 | likely_pathogenic | 0.992 | pathogenic | -1.674 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| C/P | 0.9977 | likely_pathogenic | 0.9981 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| C/Q | 0.9935 | likely_pathogenic | 0.9947 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| C/R | 0.9829 | likely_pathogenic | 0.9859 | pathogenic | -1.429 | Destabilizing | 1.0 | D | 0.92 | deleterious | D | 0.746459092 | None | None | N |
| C/S | 0.8771 | likely_pathogenic | 0.8987 | pathogenic | -1.954 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.746459092 | None | None | N |
| C/T | 0.9179 | likely_pathogenic | 0.9335 | pathogenic | -1.491 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| C/V | 0.6818 | likely_pathogenic | 0.6907 | pathogenic | -0.772 | Destabilizing | 0.999 | D | 0.798 | deleterious | None | None | None | None | N |
| C/W | 0.9696 | likely_pathogenic | 0.9728 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.746459092 | None | None | N |
| C/Y | 0.9284 | likely_pathogenic | 0.9386 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.746459092 | 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.