Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13927 | 42004;42005;42006 | chr2:178635545;178635544;178635543 | chr2:179500272;179500271;179500270 |
| N2AB | 12286 | 37081;37082;37083 | chr2:178635545;178635544;178635543 | chr2:179500272;179500271;179500270 |
| N2A | 11359 | 34300;34301;34302 | chr2:178635545;178635544;178635543 | chr2:179500272;179500271;179500270 |
| N2B | 4862 | 14809;14810;14811 | chr2:178635545;178635544;178635543 | chr2:179500272;179500271;179500270 |
| Novex-1 | 4987 | 15184;15185;15186 | chr2:178635545;178635544;178635543 | chr2:179500272;179500271;179500270 |
| Novex-2 | 5054 | 15385;15386;15387 | chr2:178635545;178635544;178635543 | chr2:179500272;179500271;179500270 |
| 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/R | rs758326922  |
-0.987 | 1.0 | D | 0.849 | 0.443 | 0.704213449561 | gnomAD-2.1.1 | 9.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 7.17E-05 | None | 0 | 0 | 0 |
| G/R | rs758326922 |
-0.987 | 1.0 | D | 0.849 | 0.443 | 0.704213449561 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14594E-04 | 0 |
| G/R | rs758326922 |
-0.987 | 1.0 | D | 0.849 | 0.443 | 0.704213449561 | gnomAD-4.0.0 | 1.37868E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.47497E-04 | 0 |
| G/V | None | None | 1.0 | D | 0.815 | 0.474 | None | gnomAD-4.0.0 | 1.63738E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.94095E-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 | 0.3691 | ambiguous | 0.4314 | ambiguous | -0.342 | Destabilizing | 0.999 | D | 0.726 | deleterious | D | 0.580467518 | None | None | N |
| G/C | 0.5581 | ambiguous | 0.5799 | pathogenic | -0.618 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/D | 0.3572 | ambiguous | 0.3756 | ambiguous | -0.993 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| G/E | 0.472 | ambiguous | 0.4599 | ambiguous | -1.145 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.57651533 | None | None | N |
| G/F | 0.91 | likely_pathogenic | 0.9321 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/H | 0.6404 | likely_pathogenic | 0.638 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/I | 0.7879 | likely_pathogenic | 0.8464 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/K | 0.601 | likely_pathogenic | 0.5348 | ambiguous | -1.015 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/L | 0.8433 | likely_pathogenic | 0.8925 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| G/M | 0.8455 | likely_pathogenic | 0.8918 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/N | 0.3412 | ambiguous | 0.3869 | ambiguous | -0.477 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/P | 0.9478 | likely_pathogenic | 0.9679 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/Q | 0.5365 | ambiguous | 0.5259 | ambiguous | -0.785 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/R | 0.504 | ambiguous | 0.4539 | ambiguous | -0.537 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.580467518 | None | None | N |
| G/S | 0.1848 | likely_benign | 0.2251 | benign | -0.551 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/T | 0.5142 | ambiguous | 0.6066 | pathogenic | -0.648 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/V | 0.6878 | likely_pathogenic | 0.7641 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.583092485 | None | None | N |
| G/W | 0.8116 | likely_pathogenic | 0.82 | pathogenic | -1.27 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/Y | 0.7869 | likely_pathogenic | 0.8085 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.82 | 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.