Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3732 | 11419;11420;11421 | chr2:178756282;178756281;178756280 | chr2:179621009;179621008;179621007 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3561 | 10906;10907;10908 | chr2:178756282;178756281;178756280 | chr2:179621009;179621008;179621007 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | None | None | None | None | None | 0.521 | None | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.8839 | likely_pathogenic | None | None | -1.572 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/D | 0.9972 | likely_pathogenic | None | None | -1.324 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/E | 0.9979 | likely_pathogenic | None | None | -1.106 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/F | 0.6741 | likely_pathogenic | None | None | -1.155 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/G | 0.7566 | likely_pathogenic | None | None | -1.91 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/H | 0.9861 | likely_pathogenic | None | None | -2.243 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| C/I | 0.8533 | likely_pathogenic | None | None | -0.67 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/K | 0.9971 | likely_pathogenic | None | None | -0.837 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/L | 0.7474 | likely_pathogenic | None | None | -0.67 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/M | 0.9255 | likely_pathogenic | None | None | -0.11 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/N | 0.9881 | likely_pathogenic | None | None | -1.363 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/P | 0.998 | likely_pathogenic | None | None | -0.947 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/Q | 0.9927 | likely_pathogenic | None | None | -0.963 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/R | 0.9681 | likely_pathogenic | None | None | -1.281 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/S | 0.9286 | likely_pathogenic | None | None | -1.665 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/T | 0.9659 | likely_pathogenic | None | None | -1.26 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/V | 0.7752 | likely_pathogenic | None | None | -0.947 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/W | 0.957 | likely_pathogenic | None | None | -1.516 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/Y | 0.8862 | likely_pathogenic | None | None | -1.271 | Destabilizing | None | None | None | None | 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.