Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34021 | 102286;102287;102288 | chr2:178534554;178534553;178534552 | chr2:179399281;179399280;179399279 |
| N2AB | 32380 | 97363;97364;97365 | chr2:178534554;178534553;178534552 | chr2:179399281;179399280;179399279 |
| N2A | 31453 | 94582;94583;94584 | chr2:178534554;178534553;178534552 | chr2:179399281;179399280;179399279 |
| N2B | 24956 | 75091;75092;75093 | chr2:178534554;178534553;178534552 | chr2:179399281;179399280;179399279 |
| Novex-1 | 25081 | 75466;75467;75468 | chr2:178534554;178534553;178534552 | chr2:179399281;179399280;179399279 |
| Novex-2 | 25148 | 75667;75668;75669 | chr2:178534554;178534553;178534552 | chr2:179399281;179399280;179399279 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: Q
- RefSeq wild type transcript codon: CAA
- RefSeq wild type template codon: GTT
- Domain: Kinase-1
- Domain position: 209
- Q(SASA): 0.5569
- Predicted PPI site: N
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 | N | None | 0.186 | 0.198526703765 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 | 0.4236 | ambiguous | 0.4321 | ambiguous | -0.363 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/C | 0.9313 | likely_pathogenic | 0.9384 | pathogenic | 0.208 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/D | 0.6768 | likely_pathogenic | 0.6799 | pathogenic | -0.186 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/E | 0.1463 | likely_benign | 0.1634 | benign | -0.189 | Destabilizing | None | None | None | None | N | 0.419155248 | None | None | N |
| Q/F | 0.9305 | likely_pathogenic | 0.926 | pathogenic | -0.412 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/G | 0.5055 | ambiguous | 0.518 | ambiguous | -0.606 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/H | 0.5608 | ambiguous | 0.5668 | pathogenic | -0.555 | Destabilizing | None | None | None | None | N | 0.501080412 | None | None | N |
| Q/I | 0.7247 | likely_pathogenic | 0.7335 | pathogenic | 0.206 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/K | 0.1833 | likely_benign | 0.2026 | benign | -0.162 | Destabilizing | None | None | None | None | N | 0.462444666 | None | None | N |
| Q/L | 0.3929 | ambiguous | 0.409 | ambiguous | 0.206 | Stabilizing | None | None | None | None | N | 0.477739405 | None | None | N |
| Q/M | 0.6748 | likely_pathogenic | 0.6647 | pathogenic | 0.595 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/N | 0.567 | likely_pathogenic | 0.5991 | pathogenic | -0.514 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/P | 0.5207 | ambiguous | 0.5229 | ambiguous | 0.046 | Stabilizing | None | None | None | None | N | 0.480513138 | None | None | N |
| Q/R | 0.1926 | likely_benign | 0.213 | benign | -0.015 | Destabilizing | None | None | None | None | N | 0.472218942 | None | None | N |
| Q/S | 0.4391 | ambiguous | 0.4372 | ambiguous | -0.509 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/T | 0.3926 | ambiguous | 0.3914 | ambiguous | -0.347 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/V | 0.5798 | likely_pathogenic | 0.5933 | pathogenic | 0.046 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/W | 0.8934 | likely_pathogenic | 0.9033 | pathogenic | -0.363 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/Y | 0.8353 | likely_pathogenic | 0.8365 | pathogenic | -0.139 | 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.