Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15369 | 46330;46331;46332 | chr2:178620416;178620415;178620414 | chr2:179485143;179485142;179485141 |
| N2AB | 13728 | 41407;41408;41409 | chr2:178620416;178620415;178620414 | chr2:179485143;179485142;179485141 |
| N2A | 12801 | 38626;38627;38628 | chr2:178620416;178620415;178620414 | chr2:179485143;179485142;179485141 |
| N2B | 6304 | 19135;19136;19137 | chr2:178620416;178620415;178620414 | chr2:179485143;179485142;179485141 |
| Novex-1 | 6429 | 19510;19511;19512 | chr2:178620416;178620415;178620414 | chr2:179485143;179485142;179485141 |
| Novex-2 | 6496 | 19711;19712;19713 | chr2:178620416;178620415;178620414 | chr2:179485143;179485142;179485141 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs754258909  |
-1.229 | 1.0 | D | 0.819 | 0.734 | 0.562580035486 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.1197E-04 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs754258909 |
-1.229 | 1.0 | D | 0.819 | 0.734 | 0.562580035486 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.89408E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs754258909 |
-1.229 | 1.0 | D | 0.819 | 0.734 | 0.562580035486 | gnomAD-4.0.0 | 3.85078E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.29927E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4345 | ambiguous | 0.4811 | ambiguous | -0.79 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | D | 0.590033517 | None | None | N |
| G/C | 0.8754 | likely_pathogenic | 0.9227 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.741433861 | None | None | N |
| G/D | 0.8969 | likely_pathogenic | 0.924 | pathogenic | -1.484 | Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.666784765 | None | None | N |
| G/E | 0.9456 | likely_pathogenic | 0.969 | pathogenic | -1.482 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/F | 0.9903 | likely_pathogenic | 0.9937 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/H | 0.9893 | likely_pathogenic | 0.994 | pathogenic | -1.589 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| G/I | 0.9838 | likely_pathogenic | 0.9924 | pathogenic | -0.186 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/K | 0.9841 | likely_pathogenic | 0.9922 | pathogenic | -1.304 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/L | 0.9796 | likely_pathogenic | 0.9884 | pathogenic | -0.186 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/M | 0.9796 | likely_pathogenic | 0.9898 | pathogenic | -0.131 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| G/N | 0.949 | likely_pathogenic | 0.9728 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/P | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/Q | 0.9658 | likely_pathogenic | 0.9834 | pathogenic | -1.162 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/R | 0.9661 | likely_pathogenic | 0.9815 | pathogenic | -1.082 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.741368159 | None | None | N |
| G/S | 0.5517 | ambiguous | 0.6417 | pathogenic | -1.351 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.705265896 | None | None | N |
| G/T | 0.9 | likely_pathogenic | 0.9427 | pathogenic | -1.261 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/V | 0.953 | likely_pathogenic | 0.9751 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.741433861 | None | None | N |
| G/W | 0.9843 | likely_pathogenic | 0.9898 | pathogenic | -1.489 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| G/Y | 0.9861 | likely_pathogenic | 0.9917 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.778 | 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.