Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18726 | 56401;56402;56403 | chr2:178599725;178599724;178599723 | chr2:179464452;179464451;179464450 |
| N2AB | 17085 | 51478;51479;51480 | chr2:178599725;178599724;178599723 | chr2:179464452;179464451;179464450 |
| N2A | 16158 | 48697;48698;48699 | chr2:178599725;178599724;178599723 | chr2:179464452;179464451;179464450 |
| N2B | 9661 | 29206;29207;29208 | chr2:178599725;178599724;178599723 | chr2:179464452;179464451;179464450 |
| Novex-1 | 9786 | 29581;29582;29583 | chr2:178599725;178599724;178599723 | chr2:179464452;179464451;179464450 |
| Novex-2 | 9853 | 29782;29783;29784 | chr2:178599725;178599724;178599723 | chr2:179464452;179464451;179464450 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs747026598  |
0.088 | 0.998 | N | 0.553 | 0.283 | 0.417334834585 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/A | rs747026598 |
0.088 | 0.998 | N | 0.553 | 0.283 | 0.417334834585 | gnomAD-4.0.0 | 3.04536E-06 | None | None | None | None | N | None | 1.74819E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.41002E-06 | 0 | 0 |
| P/L | rs1181651435 |
None | 0.64 | N | 0.557 | 0.387 | 0.551757199483 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/L | rs1181651435 |
None | 0.64 | N | 0.557 | 0.387 | 0.551757199483 | gnomAD-4.0.0 | 3.84754E-06 | None | None | None | None | N | None | 1.69331E-05 | 0 | None | 0 | 0 | None | 1.56902E-05 | 0 | 2.3957E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0643 | likely_benign | 0.0645 | benign | -1.1 | Destabilizing | 0.998 | D | 0.553 | neutral | N | 0.513337633 | None | None | N |
| P/C | 0.3889 | ambiguous | 0.3654 | ambiguous | -0.513 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| P/D | 0.2918 | likely_benign | 0.2756 | benign | -1.083 | Destabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| P/E | 0.1873 | likely_benign | 0.1797 | benign | -1.157 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| P/F | 0.3519 | ambiguous | 0.3219 | benign | -1.067 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| P/G | 0.2058 | likely_benign | 0.1862 | benign | -1.333 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| P/H | 0.1688 | likely_benign | 0.1525 | benign | -0.982 | Destabilizing | 1.0 | D | 0.671 | neutral | D | 0.525152137 | None | None | N |
| P/I | 0.1801 | likely_benign | 0.1744 | benign | -0.59 | Destabilizing | 0.998 | D | 0.683 | prob.neutral | None | None | None | None | N |
| P/K | 0.1764 | likely_benign | 0.1627 | benign | -0.984 | Destabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | N |
| P/L | 0.099 | likely_benign | 0.0958 | benign | -0.59 | Destabilizing | 0.64 | D | 0.557 | neutral | N | 0.487302626 | None | None | N |
| P/M | 0.1953 | likely_benign | 0.1893 | benign | -0.314 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| P/N | 0.2244 | likely_benign | 0.2051 | benign | -0.561 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| P/Q | 0.1228 | likely_benign | 0.1179 | benign | -0.82 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| P/R | 0.1487 | likely_benign | 0.1336 | benign | -0.395 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.51368435 | None | None | N |
| P/S | 0.1073 | likely_benign | 0.1017 | benign | -0.931 | Destabilizing | 1.0 | D | 0.615 | neutral | N | 0.468181346 | None | None | N |
| P/T | 0.0751 | likely_benign | 0.0752 | benign | -0.914 | Destabilizing | 0.999 | D | 0.599 | neutral | N | 0.513857708 | None | None | N |
| P/V | 0.1309 | likely_benign | 0.1318 | benign | -0.726 | Destabilizing | 0.998 | D | 0.571 | neutral | None | None | None | None | N |
| P/W | 0.4783 | ambiguous | 0.427 | ambiguous | -1.211 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| P/Y | 0.3128 | likely_benign | 0.2855 | benign | -0.947 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | 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.