Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18347 | 55264;55265;55266 | chr2:178602363;178602362;178602361 | chr2:179467090;179467089;179467088 |
| N2AB | 16706 | 50341;50342;50343 | chr2:178602363;178602362;178602361 | chr2:179467090;179467089;179467088 |
| N2A | 15779 | 47560;47561;47562 | chr2:178602363;178602362;178602361 | chr2:179467090;179467089;179467088 |
| N2B | 9282 | 28069;28070;28071 | chr2:178602363;178602362;178602361 | chr2:179467090;179467089;179467088 |
| Novex-1 | 9407 | 28444;28445;28446 | chr2:178602363;178602362;178602361 | chr2:179467090;179467089;179467088 |
| Novex-2 | 9474 | 28645;28646;28647 | chr2:178602363;178602362;178602361 | chr2:179467090;179467089;179467088 |
| 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/I | None | None | 1.0 | N | 0.762 | 0.55 | 0.495640347216 | gnomAD-4.0.0 | 1.59323E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86159E-06 | 0 | 0 |
| F/L | rs761905658  |
None | 0.999 | N | 0.691 | 0.57 | 0.459995458672 | gnomAD-4.0.0 | 2.73827E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59915E-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 | 0.9939 | likely_pathogenic | 0.9944 | pathogenic | -2.398 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| F/C | 0.9173 | likely_pathogenic | 0.9242 | pathogenic | -1.535 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.554708626 | None | None | N |
| F/D | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -3.564 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| F/E | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -3.332 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| F/G | 0.9946 | likely_pathogenic | 0.9956 | pathogenic | -2.834 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| F/H | 0.9934 | likely_pathogenic | 0.9951 | pathogenic | -2.066 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| F/I | 0.782 | likely_pathogenic | 0.7539 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.762 | deleterious | N | 0.502554546 | None | None | N |
| F/K | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -2.269 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| F/L | 0.9644 | likely_pathogenic | 0.9697 | pathogenic | -0.954 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | N | 0.504809499 | None | None | N |
| F/M | 0.9217 | likely_pathogenic | 0.9262 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| F/N | 0.9972 | likely_pathogenic | 0.998 | pathogenic | -3.023 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| F/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.45 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| F/Q | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -2.788 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| F/R | 0.9973 | likely_pathogenic | 0.9976 | pathogenic | -2.192 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| F/S | 0.9962 | likely_pathogenic | 0.9971 | pathogenic | -3.371 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.543352321 | None | None | N |
| F/T | 0.9959 | likely_pathogenic | 0.9965 | pathogenic | -3.013 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| F/V | 0.8223 | likely_pathogenic | 0.8084 | pathogenic | -1.45 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.488877155 | None | None | N |
| F/W | 0.9121 | likely_pathogenic | 0.9251 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| F/Y | 0.5405 | ambiguous | 0.5767 | pathogenic | -0.904 | Destabilizing | 0.999 | D | 0.607 | neutral | N | 0.505876363 | 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.