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XSB2819 : mutant myocilin [Homo sapiens]

[ CaMP Format ]

This entry is computationally expanded from SB0099

* Basic Information

OrganismHomo sapiens (human)
Protein Namesmutant myocilin
Gene NamesMYOC
Gene LocusNot available
GO FunctionNot available
Entrez Protein Entrez Nucleotide Entrez Gene UniProt OMIM HGNC HPRD KEGG
ACI62292 N/A N/A B6V6K6_HUMAN N/A N/A N/A hsa:

* Information From OMIM

Not Available.

* Structure Information

1. Primary Information

Length: 504 aa

Average Mass: 56.988 kDa

Monoisotopic Mass: 56.953 kDa

2. Domain Information

Annotated Domains: interpro / pfam / smart / prosite

Computationally Assigned Domains (Pfam+HMMER):

domain namebeginendscoree-value
M 1. 1331538.99.7
M 2. 1541744.340
--- cleavage 226 ---
OLF 1. 246503488.68.8e-144

3. Sequence Information

Fasta Sequence: XSB2819.fasta

Amino Acid Sequence and Secondary Structures (PsiPred):

4. 3D Information

Not Available.

* Cleavage Information

1 [sites]

Cleavage sites (±10aa)


Arg226 Ile

P10 P9 P8 P7 P6 P5 P4 P3 P2 P1
P1' P2' P3' P4' P5' P6' P7' P8' P9' P10'

Sequence conservation (by blast)

* References

[PubMed ID: 18776955] Xie X, Zhou X, Qu X, Wen J, Tian Y, Zheng F, Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma. Mol Vis. 2008 Sep 5;14:1666-72.