Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3671 | 11236;11237;11238 | chr2:178756465;178756464;178756463 | chr2:179621192;179621191;179621190 |
| 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 | 3500 | 10723;10724;10725 | chr2:178756465;178756464;178756463 | chr2:179621192;179621191;179621190 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | None | None | None | None | None | 0.17 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2619 | likely_benign | None | None | -1.481 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/C | 0.873 | likely_pathogenic | None | None | -1.034 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/D | 0.7742 | likely_pathogenic | None | None | -1.186 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/E | 0.5816 | likely_pathogenic | None | None | -1.197 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/F | 0.391 | ambiguous | None | None | -1.228 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/G | 0.3841 | ambiguous | None | None | -1.791 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/H | 0.8825 | likely_pathogenic | None | None | -1.341 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/I | 0.1085 | likely_benign | None | None | -0.736 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/K | 0.5954 | likely_pathogenic | None | None | -1.161 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/L | 0.3259 | likely_benign | None | None | -0.736 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/M | 0.2194 | likely_benign | None | None | -0.556 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/N | 0.692 | likely_pathogenic | None | None | -0.937 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/P | 0.9493 | likely_pathogenic | None | None | -0.949 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/Q | 0.6177 | likely_pathogenic | None | None | -1.122 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/R | 0.5445 | ambiguous | None | None | -0.66 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/S | 0.4317 | ambiguous | None | None | -1.485 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/T | 0.3213 | likely_benign | None | None | -1.384 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/W | 0.9582 | likely_pathogenic | None | None | -1.393 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/Y | 0.8697 | likely_pathogenic | None | None | -1.097 | Destabilizing | None | None | None | None | None | None | None | None | I |
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.