Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19150 | 57673;57674;57675 | chr2:178597634;178597633;178597632 | chr2:179462361;179462360;179462359 |
| N2AB | 17509 | 52750;52751;52752 | chr2:178597634;178597633;178597632 | chr2:179462361;179462360;179462359 |
| N2A | 16582 | 49969;49970;49971 | chr2:178597634;178597633;178597632 | chr2:179462361;179462360;179462359 |
| N2B | 10085 | 30478;30479;30480 | chr2:178597634;178597633;178597632 | chr2:179462361;179462360;179462359 |
| Novex-1 | 10210 | 30853;30854;30855 | chr2:178597634;178597633;178597632 | chr2:179462361;179462360;179462359 |
| Novex-2 | 10277 | 31054;31055;31056 | chr2:178597634;178597633;178597632 | chr2:179462361;179462360;179462359 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs2052065992  |
None | 1.0 | D | 0.754 | 0.694 | 0.750852903986 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/M | rs2052065992 |
None | 1.0 | D | 0.754 | 0.694 | 0.750852903986 | gnomAD-4.0.0 | 6.57739E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47115E-05 | 0 | 0 |
| I/T | rs1553659483 |
None | 1.0 | D | 0.804 | 0.781 | 0.845731052345 | gnomAD-4.0.0 | 3.18484E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71997E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9863 | likely_pathogenic | 0.9895 | pathogenic | -2.802 | Highly Destabilizing | 0.999 | D | 0.684 | prob.neutral | None | None | None | None | N |
| I/C | 0.9766 | likely_pathogenic | 0.9837 | pathogenic | -2.046 | Highly Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| I/D | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -3.429 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| I/E | 0.9952 | likely_pathogenic | 0.9966 | pathogenic | -3.262 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| I/F | 0.6093 | likely_pathogenic | 0.6561 | pathogenic | -1.777 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.583865081 | None | None | N |
| I/G | 0.9974 | likely_pathogenic | 0.9981 | pathogenic | -3.294 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| I/H | 0.9906 | likely_pathogenic | 0.9937 | pathogenic | -2.804 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| I/K | 0.9847 | likely_pathogenic | 0.9902 | pathogenic | -2.378 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| I/L | 0.2937 | likely_benign | 0.3161 | benign | -1.385 | Destabilizing | 0.993 | D | 0.475 | neutral | D | 0.544388167 | None | None | N |
| I/M | 0.3549 | ambiguous | 0.3833 | ambiguous | -1.137 | Destabilizing | 1.0 | D | 0.754 | deleterious | D | 0.604588456 | None | None | N |
| I/N | 0.9823 | likely_pathogenic | 0.9874 | pathogenic | -2.593 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.622252612 | None | None | N |
| I/P | 0.9981 | likely_pathogenic | 0.9986 | pathogenic | -1.84 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| I/Q | 0.9857 | likely_pathogenic | 0.9901 | pathogenic | -2.539 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| I/R | 0.9772 | likely_pathogenic | 0.986 | pathogenic | -1.901 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| I/S | 0.9844 | likely_pathogenic | 0.9883 | pathogenic | -3.179 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.606001086 | None | None | N |
| I/T | 0.9841 | likely_pathogenic | 0.9864 | pathogenic | -2.89 | Highly Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.621849003 | None | None | N |
| I/V | 0.2506 | likely_benign | 0.263 | benign | -1.84 | Destabilizing | 0.993 | D | 0.443 | neutral | D | 0.563067864 | None | None | N |
| I/W | 0.9778 | likely_pathogenic | 0.9843 | pathogenic | -2.248 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| I/Y | 0.9536 | likely_pathogenic | 0.9665 | pathogenic | -2.035 | Highly Destabilizing | 1.0 | D | 0.798 | 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.