Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3469 | 10630;10631;10632 | chr2:178757815;178757814;178757813 | chr2:179622542;179622541;179622540 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3423 | 10492;10493;10494 | chr2:178757815;178757814;178757813 | chr2:179622542;179622541;179622540 |
| 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/H | rs775464538  |
-0.522 | None | None | None | 0.422 | None | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 0 |
| Q/H | rs775464538 |
-0.522 | None | None | None | 0.422 | None | gnomAD-4.0.0 | 4.8027E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.31074E-06 | 0 | 0 |
| Q/P | None | None | None | None | None | 0.43 | None | gnomAD-4.0.0 | 1.6004E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44296E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.4992 | ambiguous | None | None | -0.691 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/C | 0.9094 | likely_pathogenic | None | None | 0.003 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/D | 0.8177 | likely_pathogenic | None | None | -0.68 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/E | 0.1598 | likely_benign | None | None | -0.579 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/F | 0.8456 | likely_pathogenic | None | None | -0.231 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/G | 0.7208 | likely_pathogenic | None | None | -1.058 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/H | 0.4849 | ambiguous | None | None | -0.847 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/I | 0.5853 | likely_pathogenic | None | None | 0.257 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/K | 0.2473 | likely_benign | None | None | -0.672 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/L | 0.2575 | likely_benign | None | None | 0.257 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/M | 0.5686 | likely_pathogenic | None | None | 0.624 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/N | 0.6713 | likely_pathogenic | None | None | -1.07 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/P | 0.8252 | likely_pathogenic | None | None | -0.029 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/R | 0.2721 | likely_benign | None | None | -0.584 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/S | 0.4975 | ambiguous | None | None | -1.147 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/T | 0.4254 | ambiguous | None | None | -0.868 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/V | 0.459 | ambiguous | None | None | -0.029 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/W | 0.8702 | likely_pathogenic | None | None | -0.166 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/Y | 0.7039 | likely_pathogenic | None | None | 0.013 | 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.