Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3497 | 10714;10715;10716 | chr2:178757731;178757730;178757729 | chr2:179622458;179622457;179622456 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3451 | 10576;10577;10578 | chr2:178757731;178757730;178757729 | chr2:179622458;179622457;179622456 |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/R | None | None | None | None | None | 0.086 | None | gnomAD-4.0.0 | 1.59111E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85809E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.3564 | ambiguous | None | None | -0.767 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/C | 0.7099 | likely_pathogenic | None | None | -0.142 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/D | 0.6858 | likely_pathogenic | None | None | -0.844 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/E | 0.1255 | likely_benign | None | None | -0.656 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/F | 0.7742 | likely_pathogenic | None | None | -0.213 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/G | 0.5195 | ambiguous | None | None | -1.183 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/H | 0.3235 | likely_benign | None | None | -0.752 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/I | 0.4458 | ambiguous | None | None | 0.342 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/K | 0.1254 | likely_benign | None | None | -0.493 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/L | 0.2053 | likely_benign | None | None | 0.342 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/M | 0.4877 | ambiguous | None | None | 0.573 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/N | 0.4863 | ambiguous | None | None | -1.133 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/P | 0.9176 | likely_pathogenic | None | None | 0.001 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/R | 0.1381 | likely_benign | None | None | -0.508 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/S | 0.3072 | likely_benign | None | None | -1.321 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/T | 0.2413 | likely_benign | None | None | -0.935 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/V | 0.3508 | ambiguous | None | None | 0.001 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/W | 0.7421 | likely_pathogenic | None | None | -0.17 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/Y | 0.6258 | likely_pathogenic | None | None | 0.095 | Stabilizing | 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.