Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25542 | 76849;76850;76851 | chr2:178569508;178569507;178569506 | chr2:179434235;179434234;179434233 |
| N2AB | 23901 | 71926;71927;71928 | chr2:178569508;178569507;178569506 | chr2:179434235;179434234;179434233 |
| N2A | 22974 | 69145;69146;69147 | chr2:178569508;178569507;178569506 | chr2:179434235;179434234;179434233 |
| N2B | 16477 | 49654;49655;49656 | chr2:178569508;178569507;178569506 | chr2:179434235;179434234;179434233 |
| Novex-1 | 16602 | 50029;50030;50031 | chr2:178569508;178569507;178569506 | chr2:179434235;179434234;179434233 |
| Novex-2 | 16669 | 50230;50231;50232 | chr2:178569508;178569507;178569506 | chr2:179434235;179434234;179434233 |
| 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/F | rs771230325  |
None | 0.998 | D | 0.767 | 0.64 | 0.809660090653 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/F | rs771230325 |
None | 0.998 | D | 0.767 | 0.64 | 0.809660090653 | gnomAD-4.0.0 | 1.2403E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48139E-07 | 1.09912E-05 | 0 |
| V/I | None | -0.35 | 0.543 | N | 0.221 | 0.215 | 0.470890129789 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.56E-05 | None | 0 | 0 | 0 |
| V/I | None | -0.35 | 0.543 | N | 0.221 | 0.215 | 0.470890129789 | gnomAD-4.0.0 | 4.10833E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.80302E-05 | 1.65793E-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 | 0.3556 | ambiguous | 0.4267 | ambiguous | -1.84 | Destabilizing | 0.994 | D | 0.611 | neutral | D | 0.552494288 | None | None | N |
| V/C | 0.8138 | likely_pathogenic | 0.8524 | pathogenic | -1.199 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| V/D | 0.9781 | likely_pathogenic | 0.9837 | pathogenic | -2.1 | Highly Destabilizing | 0.999 | D | 0.849 | deleterious | D | 0.613169625 | None | None | N |
| V/E | 0.9467 | likely_pathogenic | 0.9583 | pathogenic | -1.963 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| V/F | 0.5705 | likely_pathogenic | 0.6382 | pathogenic | -1.149 | Destabilizing | 0.998 | D | 0.767 | deleterious | D | 0.554149801 | None | None | N |
| V/G | 0.5626 | ambiguous | 0.6349 | pathogenic | -2.3 | Highly Destabilizing | 0.999 | D | 0.843 | deleterious | D | 0.613169625 | None | None | N |
| V/H | 0.9778 | likely_pathogenic | 0.9843 | pathogenic | -1.965 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/I | 0.0909 | likely_benign | 0.0915 | benign | -0.604 | Destabilizing | 0.543 | D | 0.221 | neutral | N | 0.444600772 | None | None | N |
| V/K | 0.9476 | likely_pathogenic | 0.9604 | pathogenic | -1.651 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| V/L | 0.586 | likely_pathogenic | 0.6245 | pathogenic | -0.604 | Destabilizing | 0.948 | D | 0.567 | neutral | D | 0.542057597 | None | None | N |
| V/M | 0.4112 | ambiguous | 0.4686 | ambiguous | -0.469 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | None | None | None | None | N |
| V/N | 0.9189 | likely_pathogenic | 0.9402 | pathogenic | -1.684 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| V/P | 0.9152 | likely_pathogenic | 0.9304 | pathogenic | -0.985 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| V/Q | 0.9304 | likely_pathogenic | 0.9495 | pathogenic | -1.659 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| V/R | 0.931 | likely_pathogenic | 0.9496 | pathogenic | -1.321 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| V/S | 0.7018 | likely_pathogenic | 0.7634 | pathogenic | -2.256 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| V/T | 0.6133 | likely_pathogenic | 0.6763 | pathogenic | -1.99 | Destabilizing | 0.996 | D | 0.721 | prob.delet. | None | None | None | None | N |
| V/W | 0.9809 | likely_pathogenic | 0.9876 | pathogenic | -1.57 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| V/Y | 0.9121 | likely_pathogenic | 0.9392 | pathogenic | -1.204 | Destabilizing | 1.0 | D | 0.765 | 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.