This old version of Proteopedia is provided for student assignments while the new version is undergoing repairs. Content and edits done in this old version of Proteopedia after March 1, 2026 will eventually be lost when it is retired in about June of 2026.
Apply for new accounts at the new Proteopedia. Your logins will work in both the old and new versions.
Mutation:PAH
From Proteopedia
(Difference between revisions)
Sequence
⎈ mutations with manual annotation;pathogenic;benign;not yet reviewed;
| Line 4: | Line 4: | ||
* '''ToDo''': cleanup elements between mutations display | * '''ToDo''': cleanup elements between mutations display | ||
| - | * '''ToDo''': where are orange labels when allmutations? | ||
* '''ToDo''': use ConSurf colouring on structure. | * '''ToDo''': use ConSurf colouring on structure. | ||
* '''ToDo''': Implement Template to render ALL mutations of a given model with ConSurf colouring. | * '''ToDo''': Implement Template to render ALL mutations of a given model with ConSurf colouring. | ||
Current revision
| |||||||||||
References
- ↑ https://ghr.nlm.nih.gov/gene/PAH
- ↑ Lee YW, Lee DH, Kim ND, Lee ST, Ahn JY, Choi TY, Lee YK, Kim SH, Kim JW, Ki CS. Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria. Exp Mol Med. 2008 Oct 31;40(5):533-40. doi: 10.3858/emm.2008.40.5.533. PMID:18985011 doi:http://dx.doi.org/10.3858/emm.2008.40.5.533
