Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20857 | 62794;62795;62796 | chr2:178589156;178589155;178589154 | chr2:179453883;179453882;179453881 |
| N2AB | 19216 | 57871;57872;57873 | chr2:178589156;178589155;178589154 | chr2:179453883;179453882;179453881 |
| N2A | 18289 | 55090;55091;55092 | chr2:178589156;178589155;178589154 | chr2:179453883;179453882;179453881 |
| N2B | 11792 | 35599;35600;35601 | chr2:178589156;178589155;178589154 | chr2:179453883;179453882;179453881 |
| Novex-1 | 11917 | 35974;35975;35976 | chr2:178589156;178589155;178589154 | chr2:179453883;179453882;179453881 |
| Novex-2 | 11984 | 36175;36176;36177 | chr2:178589156;178589155;178589154 | chr2:179453883;179453882;179453881 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | None | None | 1.0 | N | 0.737 | 0.498 | 0.462287137294 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs371982026  |
0.314 | 1.0 | N | 0.656 | 0.483 | None | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 2.58431E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs371982026 |
0.314 | 1.0 | N | 0.656 | 0.483 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 1.93115E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs371982026 |
0.314 | 1.0 | N | 0.656 | 0.483 | None | gnomAD-4.0.0 | 1.30185E-05 | None | None | None | None | N | None | 2.40378E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69545E-06 | 0 | 1.60154E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4919 | ambiguous | 0.5176 | ambiguous | -0.468 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| A/D | 0.9912 | likely_pathogenic | 0.9884 | pathogenic | -1.386 | Destabilizing | 1.0 | D | 0.917 | deleterious | N | 0.513060792 | None | None | N |
| A/E | 0.9818 | likely_pathogenic | 0.9759 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| A/F | 0.8227 | likely_pathogenic | 0.799 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.93 | deleterious | None | None | None | None | N |
| A/G | 0.3563 | ambiguous | 0.3402 | ambiguous | -1.054 | Destabilizing | 1.0 | D | 0.593 | neutral | D | 0.523136126 | None | None | N |
| A/H | 0.9784 | likely_pathogenic | 0.9707 | pathogenic | -1.49 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| A/I | 0.4875 | ambiguous | 0.4798 | ambiguous | 0.606 | Stabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| A/K | 0.9907 | likely_pathogenic | 0.9868 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| A/L | 0.4973 | ambiguous | 0.4726 | ambiguous | 0.606 | Stabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| A/M | 0.5913 | likely_pathogenic | 0.5701 | pathogenic | 0.419 | Stabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/N | 0.9622 | likely_pathogenic | 0.9472 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.928 | deleterious | None | None | None | None | N |
| A/P | 0.9894 | likely_pathogenic | 0.9886 | pathogenic | 0.252 | Stabilizing | 1.0 | D | 0.899 | deleterious | D | 0.524417097 | None | None | N |
| A/Q | 0.9556 | likely_pathogenic | 0.939 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| A/R | 0.9787 | likely_pathogenic | 0.9704 | pathogenic | -0.975 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| A/S | 0.3186 | likely_benign | 0.2914 | benign | -1.449 | Destabilizing | 1.0 | D | 0.607 | neutral | N | 0.519037028 | None | None | N |
| A/T | 0.2609 | likely_benign | 0.2346 | benign | -1.132 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.512399057 | None | None | N |
| A/V | 0.2257 | likely_benign | 0.2133 | benign | 0.252 | Stabilizing | 1.0 | D | 0.656 | neutral | N | 0.418486032 | None | None | N |
| A/W | 0.9886 | likely_pathogenic | 0.9868 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/Y | 0.9431 | likely_pathogenic | 0.9352 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.923 | 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.