Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15752 | 47479;47480;47481 | chr2:178618204;178618203;178618202 | chr2:179482931;179482930;179482929 |
| N2AB | 14111 | 42556;42557;42558 | chr2:178618204;178618203;178618202 | chr2:179482931;179482930;179482929 |
| N2A | 13184 | 39775;39776;39777 | chr2:178618204;178618203;178618202 | chr2:179482931;179482930;179482929 |
| N2B | 6687 | 20284;20285;20286 | chr2:178618204;178618203;178618202 | chr2:179482931;179482930;179482929 |
| Novex-1 | 6812 | 20659;20660;20661 | chr2:178618204;178618203;178618202 | chr2:179482931;179482930;179482929 |
| Novex-2 | 6879 | 20860;20861;20862 | chr2:178618204;178618203;178618202 | chr2:179482931;179482930;179482929 |
| 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/T | rs1284086588  |
-2.066 | 0.999 | N | 0.766 | 0.248 | 0.359963025489 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs1284086588 |
-2.066 | 0.999 | N | 0.766 | 0.248 | 0.359963025489 | gnomAD-4.0.0 | 1.3694E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.04719E-05 | None | 0 | 0 | 0 | 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 | 0.8355 | likely_pathogenic | 0.7011 | pathogenic | -1.918 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| A/D | 0.986 | likely_pathogenic | 0.9883 | pathogenic | -2.935 | Highly Destabilizing | 0.999 | D | 0.83 | deleterious | None | None | None | None | N |
| A/E | 0.9743 | likely_pathogenic | 0.977 | pathogenic | -2.83 | Highly Destabilizing | 0.999 | D | 0.763 | deleterious | D | 0.649284659 | None | None | N |
| A/F | 0.9514 | likely_pathogenic | 0.9395 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| A/G | 0.4722 | ambiguous | 0.4454 | ambiguous | -1.703 | Destabilizing | 0.996 | D | 0.583 | neutral | D | 0.632722547 | None | None | N |
| A/H | 0.989 | likely_pathogenic | 0.9886 | pathogenic | -1.675 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/I | 0.8389 | likely_pathogenic | 0.7087 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/K | 0.9934 | likely_pathogenic | 0.9932 | pathogenic | -1.539 | Destabilizing | 0.999 | D | 0.758 | deleterious | None | None | None | None | N |
| A/L | 0.7641 | likely_pathogenic | 0.6863 | pathogenic | -0.466 | Destabilizing | 0.997 | D | 0.792 | deleterious | None | None | None | None | N |
| A/M | 0.8672 | likely_pathogenic | 0.7976 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/N | 0.9629 | likely_pathogenic | 0.9565 | pathogenic | -1.79 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/P | 0.6963 | likely_pathogenic | 0.4843 | ambiguous | -0.723 | Destabilizing | 0.451 | N | 0.431 | neutral | D | 0.648450715 | None | None | N |
| A/Q | 0.9706 | likely_pathogenic | 0.9701 | pathogenic | -1.824 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/R | 0.9796 | likely_pathogenic | 0.9801 | pathogenic | -1.309 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| A/S | 0.3925 | ambiguous | 0.3612 | ambiguous | -2.119 | Highly Destabilizing | 0.996 | D | 0.605 | neutral | D | 0.618048354 | None | None | N |
| A/T | 0.6719 | likely_pathogenic | 0.5814 | pathogenic | -1.917 | Destabilizing | 0.999 | D | 0.766 | deleterious | N | 0.503778709 | None | None | N |
| A/V | 0.6031 | likely_pathogenic | 0.4495 | ambiguous | -0.723 | Destabilizing | 0.996 | D | 0.616 | neutral | N | 0.463861205 | None | None | N |
| A/W | 0.9944 | likely_pathogenic | 0.9932 | pathogenic | -1.562 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| A/Y | 0.9765 | likely_pathogenic | 0.9742 | pathogenic | -1.143 | Destabilizing | 1.0 | D | 0.835 | 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.