Problem Summary:
Gather Sequence Data and Related Information |
| Sample User Question |
 |
|
| |
|
In my grant proposal, I plan to focus on the human per2
gene. I'd like a summary of all the sequence data and related information.
I'd especially like to find any clinically relevant information that would
underscore the importance of studying this particular circadian rhythm gene.
|
|
|
|
| Analysis/Comments |
|
|
The researcher needs to view related information together so connections can be made between the different resources.
|
| Flow Chart |
|
- Entrez Gene - Enter per2 into query box.
- Search results summary page - Click on PER2 [Homo sapiens]
- LocusLink Hs PER2 record - Review information in record -- notice:
Phenotypes:
Advanced sleep phase syndrome, familial
MIM: 604348
- Click on link to OMIM entry
|
| Additional Notes |
|
|
Conclusions: Familial advanced sleep phase syndrome is a clinical condition in which affected individuals are phase-advanced by 3-4 hours compared to normal. A serine-to-glycine substitution at amino acid position 662 in the PER2 protein is found in affected individuals. Studying the effect of this mutation in human PER2 should further the understanding of circadian physiology.
|
|
