Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14386 | 43381;43382;43383 | chr2:178632975;178632974;178632973 | chr2:179497702;179497701;179497700 |
| N2AB | 12745 | 38458;38459;38460 | chr2:178632975;178632974;178632973 | chr2:179497702;179497701;179497700 |
| N2A | 11818 | 35677;35678;35679 | chr2:178632975;178632974;178632973 | chr2:179497702;179497701;179497700 |
| N2B | 5321 | 16186;16187;16188 | chr2:178632975;178632974;178632973 | chr2:179497702;179497701;179497700 |
| Novex-1 | 5446 | 16561;16562;16563 | chr2:178632975;178632974;178632973 | chr2:179497702;179497701;179497700 |
| Novex-2 | 5513 | 16762;16763;16764 | chr2:178632975;178632974;178632973 | chr2:179497702;179497701;179497700 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs762501686  |
-0.499 | 1.0 | D | 0.894 | 0.624 | 0.756649289153 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs762501686 |
-0.499 | 1.0 | D | 0.894 | 0.624 | 0.756649289153 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs762501686 |
-0.499 | 1.0 | D | 0.894 | 0.624 | 0.756649289153 | gnomAD-4.0.0 | 6.84444E-07 | None | None | None | None | N | None | 0 | 2.23684E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5642 | likely_pathogenic | 0.482 | ambiguous | -0.796 | Destabilizing | 0.999 | D | 0.665 | prob.neutral | D | 0.590716979 | None | None | N |
| G/C | 0.9088 | likely_pathogenic | 0.872 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/D | 0.8354 | likely_pathogenic | 0.7802 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| G/E | 0.8853 | likely_pathogenic | 0.8341 | pathogenic | -1.415 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.742502075 | None | None | N |
| G/F | 0.994 | likely_pathogenic | 0.9911 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| G/H | 0.9865 | likely_pathogenic | 0.9792 | pathogenic | -1.292 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/I | 0.9873 | likely_pathogenic | 0.9804 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/K | 0.9771 | likely_pathogenic | 0.9636 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| G/L | 0.986 | likely_pathogenic | 0.9768 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/M | 0.9881 | likely_pathogenic | 0.9802 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| G/N | 0.948 | likely_pathogenic | 0.92 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/P | 0.9973 | likely_pathogenic | 0.9956 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| G/Q | 0.9526 | likely_pathogenic | 0.9246 | pathogenic | -1.246 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| G/R | 0.9299 | likely_pathogenic | 0.9058 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.743246202 | None | None | N |
| G/S | 0.4635 | ambiguous | 0.3967 | ambiguous | -1.28 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| G/T | 0.8985 | likely_pathogenic | 0.8471 | pathogenic | -1.273 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| G/V | 0.9577 | likely_pathogenic | 0.9395 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.743246202 | None | None | N |
| G/W | 0.9799 | likely_pathogenic | 0.9766 | pathogenic | -1.49 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/Y | 0.9904 | likely_pathogenic | 0.985 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.863 | 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.