Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3681 | 11266;11267;11268 | chr2:178756435;178756434;178756433 | chr2:179621162;179621161;179621160 |
| 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 | 3510 | 10753;10754;10755 | chr2:178756435;178756434;178756433 | chr2:179621162;179621161;179621160 |
| 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/F | None | None | None | None | None | 0.232 | None | gnomAD-4.0.0 | 6.84218E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65651E-05 |
| C/Y | None | None | None | None | None | 0.321 | None | gnomAD-4.0.0 | 1.36844E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79889E-06 | 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 | 0.7394 | likely_pathogenic | None | None | -1.038 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/D | 0.9901 | likely_pathogenic | None | None | -1.577 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/E | 0.994 | likely_pathogenic | None | None | -1.314 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/F | 0.5826 | likely_pathogenic | None | None | -0.531 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/G | 0.6187 | likely_pathogenic | None | None | -1.382 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/H | 0.962 | likely_pathogenic | None | None | -1.621 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/I | 0.7758 | likely_pathogenic | None | None | -0.099 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/K | 0.9946 | likely_pathogenic | None | None | -0.676 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/L | 0.6921 | likely_pathogenic | None | None | -0.099 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/M | 0.8898 | likely_pathogenic | None | None | -0.03 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/N | 0.9679 | likely_pathogenic | None | None | -1.496 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/P | 0.9924 | likely_pathogenic | None | None | -0.392 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/Q | 0.9829 | likely_pathogenic | None | None | -0.933 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/R | 0.9523 | likely_pathogenic | None | None | -1.287 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/S | 0.765 | likely_pathogenic | None | None | -1.637 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/T | 0.8377 | likely_pathogenic | None | None | -1.204 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/V | 0.6565 | likely_pathogenic | None | None | -0.392 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/W | 0.9235 | likely_pathogenic | None | None | -1.053 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/Y | 0.8236 | likely_pathogenic | None | None | -0.742 | 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.