Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33967 | 102124;102125;102126 | chr2:178534716;178534715;178534714 | chr2:179399443;179399442;179399441 |
| N2AB | 32326 | 97201;97202;97203 | chr2:178534716;178534715;178534714 | chr2:179399443;179399442;179399441 |
| N2A | 31399 | 94420;94421;94422 | chr2:178534716;178534715;178534714 | chr2:179399443;179399442;179399441 |
| N2B | 24902 | 74929;74930;74931 | chr2:178534716;178534715;178534714 | chr2:179399443;179399442;179399441 |
| Novex-1 | 25027 | 75304;75305;75306 | chr2:178534716;178534715;178534714 | chr2:179399443;179399442;179399441 |
| Novex-2 | 25094 | 75505;75506;75507 | chr2:178534716;178534715;178534714 | chr2:179399443;179399442;179399441 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: K
- RefSeq wild type transcript codon: AAA
- RefSeq wild type template codon: TTT
- Domain: Kinase-1
- Domain position: 155
- Q(SASA): 0.5481
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/I | None | None | None | N | None | 0.273 | 0.382592752248 | gnomAD-4.0.0 | 1.59121E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85822E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.6408 | likely_pathogenic | 0.5809 | pathogenic | -0.072 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/C | 0.8652 | likely_pathogenic | 0.8218 | pathogenic | -0.278 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/D | 0.872 | likely_pathogenic | 0.8622 | pathogenic | 0.035 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/E | 0.459 | ambiguous | 0.3898 | ambiguous | 0.07 | Stabilizing | None | None | None | None | N | 0.456577486 | None | None | N |
| K/F | 0.8901 | likely_pathogenic | 0.8429 | pathogenic | -0.104 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/G | 0.7893 | likely_pathogenic | 0.7791 | pathogenic | -0.321 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/H | 0.4633 | ambiguous | 0.4497 | ambiguous | -0.595 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/I | 0.5192 | ambiguous | 0.401 | ambiguous | 0.52 | Stabilizing | None | None | None | None | N | 0.499080256 | None | None | N |
| K/L | 0.5055 | ambiguous | 0.453 | ambiguous | 0.52 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/M | 0.4182 | ambiguous | 0.3779 | ambiguous | 0.209 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/N | 0.663 | likely_pathogenic | 0.617 | pathogenic | 0.033 | Stabilizing | None | None | None | None | N | 0.448902152 | None | None | N |
| K/P | 0.9025 | likely_pathogenic | 0.9247 | pathogenic | 0.352 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/Q | 0.2087 | likely_benign | 0.2082 | benign | -0.087 | Destabilizing | None | None | None | None | N | 0.472701732 | None | None | N |
| K/R | 0.1274 | likely_benign | 0.1278 | benign | -0.233 | Destabilizing | None | None | None | None | N | 0.452595818 | None | None | N |
| K/S | 0.6662 | likely_pathogenic | 0.6222 | pathogenic | -0.457 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/T | 0.3665 | ambiguous | 0.3078 | benign | -0.259 | Destabilizing | None | None | None | None | N | 0.470834862 | None | None | N |
| K/V | 0.5249 | ambiguous | 0.4303 | ambiguous | 0.352 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/W | 0.9281 | likely_pathogenic | 0.9116 | pathogenic | -0.104 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/Y | 0.8328 | likely_pathogenic | 0.7879 | pathogenic | 0.221 | 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.