Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8738 | 26437;26438;26439 | chr2:178714562;178714561;178714560 | chr2:179579289;179579288;179579287 |
| N2AB | 8421 | 25486;25487;25488 | chr2:178714562;178714561;178714560 | chr2:179579289;179579288;179579287 |
| N2A | 7494 | 22705;22706;22707 | chr2:178714562;178714561;178714560 | chr2:179579289;179579288;179579287 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs1335039200  |
-2.089 | 1.0 | N | 0.771 | 0.663 | 0.497613835824 | gnomAD-2.1.1 | 1.24E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.1302E-04 | None | 0 | None | 4.85E-05 | 0 | 0 |
| F/I | rs1335039200 |
-2.089 | 1.0 | N | 0.771 | 0.663 | 0.497613835824 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92976E-04 | None | 0 | 0 | 0 | 0 | 0 |
| F/I | rs1335039200 |
-2.089 | 1.0 | N | 0.771 | 0.663 | 0.497613835824 | gnomAD-4.0.0 | 1.12549E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.03932E-04 | None | 0 | 0 | 0 | 0 | 0 |
| F/S | rs1304792247 |
None | 1.0 | D | 0.847 | 0.753 | 0.887337171484 | gnomAD-4.0.0 | 1.62391E-06 | None | None | None | None | N | None | 0 | 2.32428E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.8673 | likely_pathogenic | 0.9471 | pathogenic | -2.922 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| F/C | 0.7225 | likely_pathogenic | 0.8745 | pathogenic | -1.595 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.56378284 | None | None | N |
| F/D | 0.9836 | likely_pathogenic | 0.9933 | pathogenic | -2.811 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| F/E | 0.9837 | likely_pathogenic | 0.9937 | pathogenic | -2.673 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/G | 0.9631 | likely_pathogenic | 0.985 | pathogenic | -3.304 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| F/H | 0.9157 | likely_pathogenic | 0.9596 | pathogenic | -1.571 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| F/I | 0.3658 | ambiguous | 0.5199 | ambiguous | -1.698 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.496572244 | None | None | N |
| F/K | 0.9825 | likely_pathogenic | 0.9931 | pathogenic | -1.737 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| F/L | 0.9235 | likely_pathogenic | 0.956 | pathogenic | -1.698 | Destabilizing | 0.999 | D | 0.65 | neutral | D | 0.522126146 | None | None | N |
| F/M | 0.7152 | likely_pathogenic | 0.8167 | pathogenic | -1.324 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | None | N |
| F/N | 0.9361 | likely_pathogenic | 0.9706 | pathogenic | -1.962 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| F/P | 0.9805 | likely_pathogenic | 0.9912 | pathogenic | -2.112 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| F/Q | 0.9705 | likely_pathogenic | 0.9887 | pathogenic | -2.075 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| F/R | 0.9608 | likely_pathogenic | 0.9839 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| F/S | 0.8659 | likely_pathogenic | 0.9537 | pathogenic | -2.657 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.551919556 | None | None | N |
| F/T | 0.8743 | likely_pathogenic | 0.9513 | pathogenic | -2.424 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| F/V | 0.4402 | ambiguous | 0.6152 | pathogenic | -2.112 | Highly Destabilizing | 0.999 | D | 0.749 | deleterious | D | 0.529759468 | None | None | N |
| F/W | 0.7142 | likely_pathogenic | 0.8437 | pathogenic | -0.579 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| F/Y | 0.3707 | ambiguous | 0.4817 | ambiguous | -0.916 | Destabilizing | 0.997 | D | 0.596 | neutral | D | 0.540652156 | 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.