Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32450 | 97573;97574;97575 | chr2:178542408;178542407;178542406 | chr2:179407135;179407134;179407133 |
| N2AB | 30809 | 92650;92651;92652 | chr2:178542408;178542407;178542406 | chr2:179407135;179407134;179407133 |
| N2A | 29882 | 89869;89870;89871 | chr2:178542408;178542407;178542406 | chr2:179407135;179407134;179407133 |
| N2B | 23385 | 70378;70379;70380 | chr2:178542408;178542407;178542406 | chr2:179407135;179407134;179407133 |
| Novex-1 | 23510 | 70753;70754;70755 | chr2:178542408;178542407;178542406 | chr2:179407135;179407134;179407133 |
| Novex-2 | 23577 | 70954;70955;70956 | chr2:178542408;178542407;178542406 | chr2:179407135;179407134;179407133 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs397517769  |
0.228 | 0.949 | N | 0.288 | 0.171 | None | gnomAD-2.1.1 | 5.64E-05 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 5.59E-05 | None | 3.26883E-04 | None | 0 | 8.9E-06 | 1.65728E-04 |
| V/I | rs397517769 |
0.228 | 0.949 | N | 0.288 | 0.171 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 6.21375E-04 | 4.79846E-04 |
| V/I | rs397517769 |
0.228 | 0.949 | N | 0.288 | 0.171 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 2E-03 | None |
| V/I | rs397517769 |
0.228 | 0.949 | N | 0.288 | 0.171 | None | gnomAD-4.0.0 | 3.96623E-05 | None | None | None | None | N | None | 5.33476E-05 | 1.66633E-05 | None | 0 | 2.23115E-05 | None | 1.56235E-05 | 0 | 1.61059E-05 | 3.73298E-04 | 6.40328E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5116 | ambiguous | 0.4445 | ambiguous | -1.34 | Destabilizing | 0.998 | D | 0.469 | neutral | N | 0.512448546 | None | None | N |
| V/C | 0.8759 | likely_pathogenic | 0.8561 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| V/D | 0.9762 | likely_pathogenic | 0.9658 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.530505898 | None | None | N |
| V/E | 0.9229 | likely_pathogenic | 0.9009 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| V/F | 0.5863 | likely_pathogenic | 0.5054 | ambiguous | -0.78 | Destabilizing | 1.0 | D | 0.851 | deleterious | N | 0.49353692 | None | None | N |
| V/G | 0.8052 | likely_pathogenic | 0.7479 | pathogenic | -1.759 | Destabilizing | 1.0 | D | 0.858 | deleterious | N | 0.512401643 | None | None | N |
| V/H | 0.9609 | likely_pathogenic | 0.9487 | pathogenic | -1.223 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| V/I | 0.0961 | likely_benign | 0.0907 | benign | -0.242 | Destabilizing | 0.949 | D | 0.288 | neutral | N | 0.496132299 | None | None | N |
| V/K | 0.9302 | likely_pathogenic | 0.9185 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| V/L | 0.4774 | ambiguous | 0.4009 | ambiguous | -0.242 | Destabilizing | 0.992 | D | 0.385 | neutral | N | 0.479450693 | None | None | N |
| V/M | 0.4005 | ambiguous | 0.3292 | benign | -0.3 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| V/N | 0.8992 | likely_pathogenic | 0.875 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| V/P | 0.9639 | likely_pathogenic | 0.9632 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| V/Q | 0.8708 | likely_pathogenic | 0.8465 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| V/R | 0.8977 | likely_pathogenic | 0.878 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| V/S | 0.7584 | likely_pathogenic | 0.7078 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| V/T | 0.6132 | likely_pathogenic | 0.5806 | pathogenic | -1.452 | Destabilizing | 0.998 | D | 0.584 | neutral | None | None | None | None | N |
| V/W | 0.9874 | likely_pathogenic | 0.9816 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/Y | 0.932 | likely_pathogenic | 0.9125 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.855 | 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.