Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28799 | 86620;86621;86622 | chr2:178559737;178559736;178559735 | chr2:179424464;179424463;179424462 |
| N2AB | 27158 | 81697;81698;81699 | chr2:178559737;178559736;178559735 | chr2:179424464;179424463;179424462 |
| N2A | 26231 | 78916;78917;78918 | chr2:178559737;178559736;178559735 | chr2:179424464;179424463;179424462 |
| N2B | 19734 | 59425;59426;59427 | chr2:178559737;178559736;178559735 | chr2:179424464;179424463;179424462 |
| Novex-1 | 19859 | 59800;59801;59802 | chr2:178559737;178559736;178559735 | chr2:179424464;179424463;179424462 |
| Novex-2 | 19926 | 60001;60002;60003 | chr2:178559737;178559736;178559735 | chr2:179424464;179424463;179424462 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs755083936  |
-0.197 | 1.0 | N | 0.83 | 0.434 | 0.569207251248 | gnomAD-2.1.1 | 4.23E-06 | None | None | None | None | N | None | 6.5E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs755083936 |
None | 1.0 | N | 0.661 | 0.31 | 0.426084969639 | gnomAD-4.0.0 | 1.38211E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.39521E-05 | 0 |
| A/V | None | None | 1.0 | N | 0.579 | 0.266 | 0.542232011923 | gnomAD-4.0.0 | 2.76449E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.62283E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5851 | likely_pathogenic | 0.5695 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| A/D | 0.9723 | likely_pathogenic | 0.9716 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.50630548 | None | None | N |
| A/E | 0.9686 | likely_pathogenic | 0.969 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/F | 0.8284 | likely_pathogenic | 0.8055 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/G | 0.1279 | likely_benign | 0.1467 | benign | -0.903 | Destabilizing | 1.0 | D | 0.529 | neutral | N | 0.511644122 | None | None | N |
| A/H | 0.9706 | likely_pathogenic | 0.9679 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/I | 0.6815 | likely_pathogenic | 0.6493 | pathogenic | -0.033 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/K | 0.9885 | likely_pathogenic | 0.9878 | pathogenic | -0.902 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/L | 0.6689 | likely_pathogenic | 0.6497 | pathogenic | -0.033 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| A/M | 0.7297 | likely_pathogenic | 0.7083 | pathogenic | -0.176 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| A/N | 0.9201 | likely_pathogenic | 0.9172 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/P | 0.9585 | likely_pathogenic | 0.9572 | pathogenic | -0.188 | Destabilizing | 1.0 | D | 0.83 | deleterious | N | 0.499722115 | None | None | N |
| A/Q | 0.9551 | likely_pathogenic | 0.9536 | pathogenic | -0.768 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| A/R | 0.974 | likely_pathogenic | 0.9724 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| A/S | 0.2115 | likely_benign | 0.2031 | benign | -1.12 | Destabilizing | 1.0 | D | 0.555 | neutral | N | 0.506795663 | None | None | N |
| A/T | 0.3564 | ambiguous | 0.3289 | benign | -1.011 | Destabilizing | 1.0 | D | 0.661 | neutral | N | 0.49827218 | None | None | N |
| A/V | 0.3825 | ambiguous | 0.3528 | ambiguous | -0.188 | Destabilizing | 1.0 | D | 0.579 | neutral | N | 0.472680302 | None | None | N |
| A/W | 0.9812 | likely_pathogenic | 0.9786 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/Y | 0.9073 | likely_pathogenic | 0.8966 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.825 | 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.