Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14527 | 43804;43805;43806 | chr2:178632315;178632314;178632313 | chr2:179497042;179497041;179497040 |
| N2AB | 12886 | 38881;38882;38883 | chr2:178632315;178632314;178632313 | chr2:179497042;179497041;179497040 |
| N2A | 11959 | 36100;36101;36102 | chr2:178632315;178632314;178632313 | chr2:179497042;179497041;179497040 |
| N2B | 5462 | 16609;16610;16611 | chr2:178632315;178632314;178632313 | chr2:179497042;179497041;179497040 |
| Novex-1 | 5587 | 16984;16985;16986 | chr2:178632315;178632314;178632313 | chr2:179497042;179497041;179497040 |
| Novex-2 | 5654 | 17185;17186;17187 | chr2:178632315;178632314;178632313 | chr2:179497042;179497041;179497040 |
| 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 | rs1358591664  |
-0.73 | 0.997 | D | 0.537 | 0.424 | 0.717526509295 | gnomAD-2.1.1 | 7.39E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.1E-06 | 1.43885E-04 |
| V/I | rs1358591664 |
-0.73 | 0.997 | D | 0.537 | 0.424 | 0.717526509295 | 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/I | rs1358591664 |
-0.73 | 0.997 | D | 0.537 | 0.424 | 0.717526509295 | gnomAD-4.0.0 | 6.21792E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.64474E-06 | 0 | 1.60612E-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 | 0.6194 | likely_pathogenic | 0.5985 | pathogenic | -1.922 | Destabilizing | 0.999 | D | 0.571 | neutral | D | 0.675072339 | None | None | N |
| V/C | 0.9205 | likely_pathogenic | 0.909 | pathogenic | -1.076 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| V/D | 0.9829 | likely_pathogenic | 0.9792 | pathogenic | -2.344 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.71124252 | None | None | N |
| V/E | 0.957 | likely_pathogenic | 0.951 | pathogenic | -2.202 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| V/F | 0.6963 | likely_pathogenic | 0.6228 | pathogenic | -1.288 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.652408654 | None | None | N |
| V/G | 0.7304 | likely_pathogenic | 0.6698 | pathogenic | -2.35 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.54616045 | None | None | N |
| V/H | 0.9883 | likely_pathogenic | 0.9856 | pathogenic | -1.937 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/I | 0.1656 | likely_benign | 0.1649 | benign | -0.761 | Destabilizing | 0.997 | D | 0.537 | neutral | D | 0.63223564 | None | None | N |
| V/K | 0.9696 | likely_pathogenic | 0.9648 | pathogenic | -1.6 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| V/L | 0.6893 | likely_pathogenic | 0.6613 | pathogenic | -0.761 | Destabilizing | 0.997 | D | 0.588 | neutral | D | 0.636511978 | None | None | N |
| V/M | 0.6335 | likely_pathogenic | 0.5982 | pathogenic | -0.541 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| V/N | 0.9642 | likely_pathogenic | 0.9569 | pathogenic | -1.643 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| V/P | 0.9099 | likely_pathogenic | 0.8869 | pathogenic | -1.121 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| V/Q | 0.9632 | likely_pathogenic | 0.9579 | pathogenic | -1.652 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| V/R | 0.9538 | likely_pathogenic | 0.9437 | pathogenic | -1.246 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| V/S | 0.863 | likely_pathogenic | 0.8464 | pathogenic | -2.155 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| V/T | 0.7258 | likely_pathogenic | 0.6967 | pathogenic | -1.894 | Destabilizing | 0.999 | D | 0.614 | neutral | None | None | None | None | N |
| V/W | 0.9887 | likely_pathogenic | 0.9846 | pathogenic | -1.681 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| V/Y | 0.9548 | likely_pathogenic | 0.9396 | pathogenic | -1.319 | Destabilizing | 1.0 | D | 0.79 | 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.