Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29698 | 89317;89318;89319 | chr2:178554019;178554018;178554017 | chr2:179418746;179418745;179418744 |
| N2AB | 28057 | 84394;84395;84396 | chr2:178554019;178554018;178554017 | chr2:179418746;179418745;179418744 |
| N2A | 27130 | 81613;81614;81615 | chr2:178554019;178554018;178554017 | chr2:179418746;179418745;179418744 |
| N2B | 20633 | 62122;62123;62124 | chr2:178554019;178554018;178554017 | chr2:179418746;179418745;179418744 |
| Novex-1 | 20758 | 62497;62498;62499 | chr2:178554019;178554018;178554017 | chr2:179418746;179418745;179418744 |
| Novex-2 | 20825 | 62698;62699;62700 | chr2:178554019;178554018;178554017 | chr2:179418746;179418745;179418744 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/I | rs756899225  |
-1.624 | 0.999 | D | 0.843 | 0.687 | 0.811075537442 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| L/I | rs756899225 |
-1.624 | 0.999 | D | 0.843 | 0.687 | 0.811075537442 | gnomAD-4.0.0 | 9.58018E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.25924E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9662 | likely_pathogenic | 0.9723 | pathogenic | -2.509 | Highly Destabilizing | 0.999 | D | 0.805 | deleterious | None | None | None | None | N |
| L/C | 0.9373 | likely_pathogenic | 0.9407 | pathogenic | -2.282 | Highly Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| L/D | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.516 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| L/E | 0.9954 | likely_pathogenic | 0.9962 | pathogenic | -2.434 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| L/F | 0.8526 | likely_pathogenic | 0.8826 | pathogenic | -1.953 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.660100784 | None | None | N |
| L/G | 0.9927 | likely_pathogenic | 0.9936 | pathogenic | -2.919 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| L/H | 0.9885 | likely_pathogenic | 0.9902 | pathogenic | -2.061 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.676927362 | None | None | N |
| L/I | 0.3842 | ambiguous | 0.4114 | ambiguous | -1.385 | Destabilizing | 0.999 | D | 0.843 | deleterious | D | 0.649573012 | None | None | N |
| L/K | 0.9898 | likely_pathogenic | 0.9906 | pathogenic | -1.881 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| L/M | 0.5149 | ambiguous | 0.5449 | ambiguous | -1.294 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| L/N | 0.9923 | likely_pathogenic | 0.9919 | pathogenic | -1.97 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| L/P | 0.9949 | likely_pathogenic | 0.9961 | pathogenic | -1.735 | Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.676927362 | None | None | N |
| L/Q | 0.9777 | likely_pathogenic | 0.9799 | pathogenic | -2.113 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| L/R | 0.9801 | likely_pathogenic | 0.9825 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.660908001 | None | None | N |
| L/S | 0.9948 | likely_pathogenic | 0.9957 | pathogenic | -2.701 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| L/T | 0.9727 | likely_pathogenic | 0.9767 | pathogenic | -2.484 | Highly Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| L/V | 0.4612 | ambiguous | 0.5005 | ambiguous | -1.735 | Destabilizing | 0.999 | D | 0.85 | deleterious | D | 0.595589371 | None | None | N |
| L/W | 0.9866 | likely_pathogenic | 0.9905 | pathogenic | -2.061 | Highly Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| L/Y | 0.9856 | likely_pathogenic | 0.9884 | pathogenic | -1.84 | Destabilizing | 1.0 | D | 0.783 | 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.