Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25668 | 77227;77228;77229 | chr2:178569130;178569129;178569128 | chr2:179433857;179433856;179433855 |
| N2AB | 24027 | 72304;72305;72306 | chr2:178569130;178569129;178569128 | chr2:179433857;179433856;179433855 |
| N2A | 23100 | 69523;69524;69525 | chr2:178569130;178569129;178569128 | chr2:179433857;179433856;179433855 |
| N2B | 16603 | 50032;50033;50034 | chr2:178569130;178569129;178569128 | chr2:179433857;179433856;179433855 |
| Novex-1 | 16728 | 50407;50408;50409 | chr2:178569130;178569129;178569128 | chr2:179433857;179433856;179433855 |
| Novex-2 | 16795 | 50608;50609;50610 | chr2:178569130;178569129;178569128 | chr2:179433857;179433856;179433855 |
| 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/V | rs771896110  |
-0.13 | 0.999 | D | 0.881 | 0.466 | 0.896370110884 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/V | rs771896110 |
-0.13 | 0.999 | D | 0.881 | 0.466 | 0.896370110884 | gnomAD-4.0.0 | 1.59196E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43336E-05 | 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 | 0.5774 | likely_pathogenic | 0.5908 | pathogenic | -0.435 | Destabilizing | 0.978 | D | 0.717 | prob.delet. | N | 0.503536186 | None | None | N |
| G/C | 0.7644 | likely_pathogenic | 0.771 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.549672651 | None | None | N |
| G/D | 0.822 | likely_pathogenic | 0.8108 | pathogenic | -0.797 | Destabilizing | 0.405 | N | 0.603 | neutral | N | 0.503180565 | None | None | N |
| G/E | 0.8756 | likely_pathogenic | 0.8788 | pathogenic | -0.958 | Destabilizing | 0.998 | D | 0.867 | deleterious | None | None | None | None | N |
| G/F | 0.9661 | likely_pathogenic | 0.9667 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/H | 0.9358 | likely_pathogenic | 0.933 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| G/I | 0.9521 | likely_pathogenic | 0.9485 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/K | 0.9586 | likely_pathogenic | 0.9521 | pathogenic | -1.007 | Destabilizing | 0.999 | D | 0.877 | deleterious | None | None | None | None | N |
| G/L | 0.9468 | likely_pathogenic | 0.9458 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| G/M | 0.9409 | likely_pathogenic | 0.9413 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/N | 0.6522 | likely_pathogenic | 0.6506 | pathogenic | -0.615 | Destabilizing | 0.998 | D | 0.836 | deleterious | None | None | None | None | N |
| G/P | 0.9959 | likely_pathogenic | 0.9946 | pathogenic | -0.45 | Destabilizing | 0.999 | D | 0.888 | deleterious | None | None | None | None | N |
| G/Q | 0.8999 | likely_pathogenic | 0.8986 | pathogenic | -0.934 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| G/R | 0.9318 | likely_pathogenic | 0.9281 | pathogenic | -0.492 | Destabilizing | 0.999 | D | 0.895 | deleterious | D | 0.541657254 | None | None | N |
| G/S | 0.3457 | ambiguous | 0.3639 | ambiguous | -0.764 | Destabilizing | 0.994 | D | 0.805 | deleterious | N | 0.511409772 | None | None | N |
| G/T | 0.7304 | likely_pathogenic | 0.7044 | pathogenic | -0.861 | Destabilizing | 0.999 | D | 0.877 | deleterious | None | None | None | None | N |
| G/V | 0.9035 | likely_pathogenic | 0.8979 | pathogenic | -0.45 | Destabilizing | 0.999 | D | 0.881 | deleterious | D | 0.537644783 | None | None | N |
| G/W | 0.9531 | likely_pathogenic | 0.951 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| G/Y | 0.9362 | likely_pathogenic | 0.9372 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.868 | 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.