Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20264 | 61015;61016;61017 | chr2:178590935;178590934;178590933 | chr2:179455662;179455661;179455660 |
| N2AB | 18623 | 56092;56093;56094 | chr2:178590935;178590934;178590933 | chr2:179455662;179455661;179455660 |
| N2A | 17696 | 53311;53312;53313 | chr2:178590935;178590934;178590933 | chr2:179455662;179455661;179455660 |
| N2B | 11199 | 33820;33821;33822 | chr2:178590935;178590934;178590933 | chr2:179455662;179455661;179455660 |
| Novex-1 | 11324 | 34195;34196;34197 | chr2:178590935;178590934;178590933 | chr2:179455662;179455661;179455660 |
| Novex-2 | 11391 | 34396;34397;34398 | chr2:178590935;178590934;178590933 | chr2:179455662;179455661;179455660 |
| 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/D | None | None | 0.999 | N | 0.829 | 0.456 | 0.736651910863 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/G | rs766974366  |
None | 0.999 | N | 0.827 | 0.419 | 0.714628216355 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | None | None | 0.994 | N | 0.657 | 0.269 | 0.45470266194 | gnomAD-4.0.0 | 6.84425E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99713E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2075 | likely_benign | 0.2181 | benign | -0.969 | Destabilizing | 0.997 | D | 0.691 | prob.delet. | N | 0.475844874 | None | None | N |
| V/C | 0.778 | likely_pathogenic | 0.7546 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| V/D | 0.5089 | ambiguous | 0.54 | ambiguous | -0.788 | Destabilizing | 0.999 | D | 0.829 | deleterious | N | 0.476605343 | None | None | N |
| V/E | 0.2736 | likely_benign | 0.2784 | benign | -0.872 | Destabilizing | 0.999 | D | 0.852 | deleterious | None | None | None | None | N |
| V/F | 0.2014 | likely_benign | 0.2145 | benign | -0.969 | Destabilizing | 0.999 | D | 0.847 | deleterious | N | 0.476351853 | None | None | N |
| V/G | 0.4252 | ambiguous | 0.4314 | ambiguous | -1.184 | Destabilizing | 0.999 | D | 0.827 | deleterious | N | 0.477365811 | None | None | N |
| V/H | 0.6242 | likely_pathogenic | 0.6104 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| V/I | 0.071 | likely_benign | 0.0702 | benign | -0.525 | Destabilizing | 0.994 | D | 0.635 | neutral | N | 0.468356626 | None | None | N |
| V/K | 0.3228 | likely_benign | 0.3036 | benign | -0.811 | Destabilizing | 0.999 | D | 0.854 | deleterious | None | None | None | None | N |
| V/L | 0.1649 | likely_benign | 0.1661 | benign | -0.525 | Destabilizing | 0.994 | D | 0.657 | prob.neutral | N | 0.516225143 | None | None | N |
| V/M | 0.1165 | likely_benign | 0.1199 | benign | -0.37 | Destabilizing | 0.999 | D | 0.697 | prob.delet. | None | None | None | None | N |
| V/N | 0.3983 | ambiguous | 0.4136 | ambiguous | -0.47 | Destabilizing | 0.999 | D | 0.835 | deleterious | None | None | None | None | N |
| V/P | 0.5585 | ambiguous | 0.5894 | pathogenic | -0.637 | Destabilizing | 0.999 | D | 0.858 | deleterious | None | None | None | None | N |
| V/Q | 0.3436 | ambiguous | 0.3347 | benign | -0.74 | Destabilizing | 0.999 | D | 0.855 | deleterious | None | None | None | None | N |
| V/R | 0.3064 | likely_benign | 0.2902 | benign | -0.211 | Destabilizing | 0.999 | D | 0.84 | deleterious | None | None | None | None | N |
| V/S | 0.3132 | likely_benign | 0.3227 | benign | -0.886 | Destabilizing | 0.999 | D | 0.839 | deleterious | None | None | None | None | N |
| V/T | 0.1505 | likely_benign | 0.1524 | benign | -0.87 | Destabilizing | 0.998 | D | 0.638 | neutral | None | None | None | None | N |
| V/W | 0.8238 | likely_pathogenic | 0.8137 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| V/Y | 0.5837 | likely_pathogenic | 0.5786 | pathogenic | -0.784 | Destabilizing | 0.999 | D | 0.829 | 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.