Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26755 | 80488;80489;80490 | chr2:178565869;178565868;178565867 | chr2:179430596;179430595;179430594 |
| N2AB | 25114 | 75565;75566;75567 | chr2:178565869;178565868;178565867 | chr2:179430596;179430595;179430594 |
| N2A | 24187 | 72784;72785;72786 | chr2:178565869;178565868;178565867 | chr2:179430596;179430595;179430594 |
| N2B | 17690 | 53293;53294;53295 | chr2:178565869;178565868;178565867 | chr2:179430596;179430595;179430594 |
| Novex-1 | 17815 | 53668;53669;53670 | chr2:178565869;178565868;178565867 | chr2:179430596;179430595;179430594 |
| Novex-2 | 17882 | 53869;53870;53871 | chr2:178565869;178565868;178565867 | chr2:179430596;179430595;179430594 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs200181804  |
-1.479 | 1.0 | N | 0.689 | 0.553 | 0.562844193612 | gnomAD-2.1.1 | 1.60642E-04 | None | None | None | None | N | None | 8.27E-05 | 1.69693E-04 | None | 0 | 0 | None | 0 | None | 0 | 2.73506E-04 | 2.80505E-04 |
| F/L | rs200181804 |
-1.479 | 1.0 | N | 0.689 | 0.553 | 0.562844193612 | gnomAD-3.1.2 | 2.95784E-04 | None | None | None | None | N | None | 1.44725E-04 | 3.27783E-04 | 0 | 0 | 0 | None | 0 | 0 | 4.70533E-04 | 0 | 9.56938E-04 |
| F/L | rs200181804 |
-1.479 | 1.0 | N | 0.689 | 0.553 | 0.562844193612 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| F/L | rs200181804 |
-1.479 | 1.0 | N | 0.689 | 0.553 | 0.562844193612 | gnomAD-4.0.0 | 2.9498E-04 | None | None | None | None | N | None | 1.06615E-04 | 1.83358E-04 | None | 0 | 0 | None | 0 | 0 | 3.65361E-04 | 0 | 4.16226E-04 |
| F/S | None | None | 1.0 | D | 0.843 | 0.769 | 0.878141233213 | gnomAD-4.0.0 | 1.59159E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85919E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | -2.644 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| F/C | 0.984 | likely_pathogenic | 0.9811 | pathogenic | -1.787 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.548289845 | None | None | N |
| F/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.617 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| F/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.385 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/G | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -3.089 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| F/H | 0.9965 | likely_pathogenic | 0.9961 | pathogenic | -2.011 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| F/I | 0.9428 | likely_pathogenic | 0.9381 | pathogenic | -1.175 | Destabilizing | 1.0 | D | 0.776 | deleterious | N | 0.51983588 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.484 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| F/L | 0.9915 | likely_pathogenic | 0.9902 | pathogenic | -1.175 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.51320329 | None | None | N |
| F/M | 0.9803 | likely_pathogenic | 0.9803 | pathogenic | -0.862 | Destabilizing | 0.999 | D | 0.806 | deleterious | None | None | None | None | N |
| F/N | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -3.191 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.679 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| F/Q | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -3.005 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| F/R | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -2.247 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| F/S | 0.998 | likely_pathogenic | 0.9975 | pathogenic | -3.644 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.55964615 | None | None | N |
| F/T | 0.9984 | likely_pathogenic | 0.9982 | pathogenic | -3.288 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| F/V | 0.9542 | likely_pathogenic | 0.9501 | pathogenic | -1.679 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.500233461 | None | None | N |
| F/W | 0.931 | likely_pathogenic | 0.9339 | pathogenic | -0.583 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| F/Y | 0.7157 | likely_pathogenic | 0.7197 | pathogenic | -0.96 | Destabilizing | 1.0 | D | 0.597 | neutral | N | 0.517561837 | 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.