Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22870 | 68833;68834;68835 | chr2:178577818;178577817;178577816 | chr2:179442545;179442544;179442543 |
| N2AB | 21229 | 63910;63911;63912 | chr2:178577818;178577817;178577816 | chr2:179442545;179442544;179442543 |
| N2A | 20302 | 61129;61130;61131 | chr2:178577818;178577817;178577816 | chr2:179442545;179442544;179442543 |
| N2B | 13805 | 41638;41639;41640 | chr2:178577818;178577817;178577816 | chr2:179442545;179442544;179442543 |
| Novex-1 | 13930 | 42013;42014;42015 | chr2:178577818;178577817;178577816 | chr2:179442545;179442544;179442543 |
| Novex-2 | 13997 | 42214;42215;42216 | chr2:178577818;178577817;178577816 | chr2:179442545;179442544;179442543 |
| 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/A | None | None | 1.0 | N | 0.639 | 0.532 | 0.441221003447 | gnomAD-4.0.0 | 1.37005E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.3162E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8284 | likely_pathogenic | 0.8258 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.639 | neutral | N | 0.498910923 | None | None | I |
| G/C | 0.8687 | likely_pathogenic | 0.8654 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.536577918 | None | None | I |
| G/D | 0.9477 | likely_pathogenic | 0.9504 | pathogenic | -0.854 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | N | 0.519763883 | None | None | I |
| G/E | 0.9588 | likely_pathogenic | 0.9606 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/F | 0.9794 | likely_pathogenic | 0.9785 | pathogenic | -1.114 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| G/H | 0.9508 | likely_pathogenic | 0.9557 | pathogenic | -0.633 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/I | 0.9688 | likely_pathogenic | 0.963 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/K | 0.9377 | likely_pathogenic | 0.9507 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/L | 0.9619 | likely_pathogenic | 0.9619 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/M | 0.9731 | likely_pathogenic | 0.9708 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/N | 0.8985 | likely_pathogenic | 0.8965 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | I |
| G/P | 0.9958 | likely_pathogenic | 0.9947 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/Q | 0.9241 | likely_pathogenic | 0.9306 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/R | 0.8781 | likely_pathogenic | 0.8981 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.520017372 | None | None | I |
| G/S | 0.6349 | likely_pathogenic | 0.623 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | N | 0.508670612 | None | None | I |
| G/T | 0.9212 | likely_pathogenic | 0.9151 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/V | 0.9605 | likely_pathogenic | 0.9535 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.550541116 | None | None | I |
| G/W | 0.964 | likely_pathogenic | 0.9629 | pathogenic | -1.278 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/Y | 0.965 | likely_pathogenic | 0.9651 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
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.