Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3714 | 11365;11366;11367 | chr2:178756336;178756335;178756334 | chr2:179621063;179621062;179621061 |
| 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 | 3543 | 10852;10853;10854 | chr2:178756336;178756335;178756334 | chr2:179621063;179621062;179621061 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | None | None | None | None | None | 0.159 | None | gnomAD-4.0.0 | 1.59118E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.2869 | likely_benign | None | None | -2.104 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.5262 | ambiguous | None | None | -1.311 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.5003 | ambiguous | None | None | -1.75 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.3964 | ambiguous | None | None | -1.663 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.1365 | likely_benign | None | None | -1.407 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/G | 0.5428 | ambiguous | None | None | -2.524 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.3284 | likely_benign | None | None | -1.787 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.2564 | likely_benign | None | None | -1.48 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.1183 | likely_benign | None | None | -0.966 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/M | 0.1038 | likely_benign | None | None | -0.737 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/N | 0.188 | likely_benign | None | None | -1.453 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/P | 0.7907 | likely_pathogenic | None | None | -1.318 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.2978 | likely_benign | None | None | -1.531 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.1738 | likely_benign | None | None | -0.954 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.2015 | likely_benign | None | None | -2.147 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/T | 0.1379 | likely_benign | None | None | -1.931 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/V | 0.0865 | likely_benign | None | None | -1.318 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/W | 0.5946 | likely_pathogenic | None | None | -1.605 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.3163 | likely_benign | None | None | -1.35 | 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.