Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27572 | 82939;82940;82941 | chr2:178563418;178563417;178563416 | chr2:179428145;179428144;179428143 |
| N2AB | 25931 | 78016;78017;78018 | chr2:178563418;178563417;178563416 | chr2:179428145;179428144;179428143 |
| N2A | 25004 | 75235;75236;75237 | chr2:178563418;178563417;178563416 | chr2:179428145;179428144;179428143 |
| N2B | 18507 | 55744;55745;55746 | chr2:178563418;178563417;178563416 | chr2:179428145;179428144;179428143 |
| Novex-1 | 18632 | 56119;56120;56121 | chr2:178563418;178563417;178563416 | chr2:179428145;179428144;179428143 |
| Novex-2 | 18699 | 56320;56321;56322 | chr2:178563418;178563417;178563416 | chr2:179428145;179428144;179428143 |
| 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/A | rs1308840853  |
-0.534 | 1.0 | N | 0.722 | 0.445 | 0.352910780287 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/A | rs1308840853 |
-0.534 | 1.0 | N | 0.722 | 0.445 | 0.352910780287 | gnomAD-4.0.0 | 1.59153E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85843E-06 | 0 | 0 |
| G/R | None | None | 1.0 | N | 0.859 | 0.619 | 0.614631991763 | gnomAD-4.0.0 | 2.73703E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87287E-05 | 0 | 2.69845E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4398 | ambiguous | 0.4863 | ambiguous | -0.89 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | N | 0.508195951 | None | None | N |
| G/C | 0.7608 | likely_pathogenic | 0.7808 | pathogenic | -1.234 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.536721913 | None | None | N |
| G/D | 0.936 | likely_pathogenic | 0.9251 | pathogenic | -2.108 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | N | 0.464946322 | None | None | N |
| G/E | 0.9432 | likely_pathogenic | 0.9393 | pathogenic | -2.109 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/F | 0.9534 | likely_pathogenic | 0.9581 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/H | 0.9681 | likely_pathogenic | 0.967 | pathogenic | -1.443 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/I | 0.9394 | likely_pathogenic | 0.9433 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/K | 0.9824 | likely_pathogenic | 0.9822 | pathogenic | -1.286 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/L | 0.9103 | likely_pathogenic | 0.9176 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/M | 0.9415 | likely_pathogenic | 0.9497 | pathogenic | -0.506 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/N | 0.9248 | likely_pathogenic | 0.9246 | pathogenic | -1.192 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/P | 0.9941 | likely_pathogenic | 0.9932 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/Q | 0.9469 | likely_pathogenic | 0.9469 | pathogenic | -1.36 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/R | 0.9593 | likely_pathogenic | 0.9585 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.859 | deleterious | N | 0.5176037 | None | None | N |
| G/S | 0.2995 | likely_benign | 0.3192 | benign | -1.402 | Destabilizing | 1.0 | D | 0.77 | deleterious | N | 0.476374625 | None | None | N |
| G/T | 0.8029 | likely_pathogenic | 0.817 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/V | 0.8936 | likely_pathogenic | 0.9036 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.524694045 | None | None | N |
| G/W | 0.9471 | likely_pathogenic | 0.9427 | pathogenic | -1.491 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/Y | 0.9503 | likely_pathogenic | 0.9519 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.847 | 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.