Sequence information
Variant position: 380 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 504 The length of the canonical sequence.
Location on the sequence:
IPGAGYHGQFPYSWGGYTDI
D LAVDEAGLWVIYSTDEAKGA
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human IPGAGYHGQFPYSW------GGYTDID LAVDE---------------AGLWVIYSTDEAK---------------------------GA
IPGAGYHGQFPYSW------GGYTDID LAVDE---------
Mouse IPGAGYHGHFPYAW------GGYTDID LAVDE---------
Rat IPGAGYHGQFPYAW------GGYTDID LAVDE---------
Bovine IPGAGYHGQFPYSW------GGYTDID LAVDE---------
Rabbit IPGAGYRGQFPYSW------GGYTDID LAVDE---------
Cat IPGAGYHGQFPYSW------GGYTDID LAVDE---------
Slime mold QKGTTLAVNFGQSIQYFKKKGSNNTVT FLKDEMHKEIFLKK
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Literature citations
Myocilin mutations causing glaucoma inhibit the intracellular endoproteolytic cleavage of myocilin between amino acids Arg226 and Ile227.
Aroca-Aguilar J.D.; Sanchez-Sanchez F.; Ghosh S.; Coca-Prados M.; Escribano J.;
J. Biol. Chem. 280:21043-21051(2005)
Cited for: PROTEIN SEQUENCE OF 227-233; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANTS GLC1A LYS-323; LEU-370 AND GLY-380; PROTEOLYTIC PROCESSING;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.