Variant position: 360 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:
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 ESRTVIRYELNTETVKAEKE IPGAGYHGQFPYSW------GGYTDID
Mouse ESRTVVRYELDTETVKAEKE IPGAGYHGHFPYAW------G
Rat ESRTVLRYELNTETVKAEKE IPGAGYHGQFPYAW------G
Bovine ESRTVLRYDLRTETLKAEKE IPGAGYHGQFPYSW------G
Rabbit GSRTVIRFELNTETVKAEKE IPGAGYRGQFPYSW------G
Cat ESRTVIRYELNTETVKAEKE IPGAGYHGQFPYSW------G
Slime mold QFDVAVTTEFKTELVALINK QKGTTLAVNFGQSIQYFKKKG
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.
Novel mutations in the myocilin gene in Japanese glaucoma patients.
Kubota R.; Mashima Y.; Ohtake Y.; Tanino T.; Kimura T.; Hotta Y.; Kanai A.; Tokuoka S.; Azuma I.; Tanihara H.; Inatani M.; Inoue Y.; Kudoh J.; Oguchi Y.; Shimizu N.;
Hum. Mutat. 16:270-270(2000)
Cited for: VARIANTS GLC1A GLN-158; ASN-360 AND THR-363; VARIANTS HIS-19; LYS-76; GLU-208 AND HIS-470;
Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography.
Ishikawa K.; Funayama T.; Ohtake Y.; Tanino T.; Kurosaka D.; Suzuki K.; Ideta H.; Fujimaki T.; Tanihara H.; Asaoka R.; Naoi N.; Yasuda N.; Iwata T.; Mashima Y.;
J. Glaucoma 13:466-471(2004)
Cited for: VARIANTS GLC1A ASN-360; THR-363; LEU-369 AND PRO-448;
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