Variant position: 213 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 577 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 KEIKHSPGPTRTVSTGTALS KYRSRSADGAKNYFEHEELTV
Rhesus macaque KEIKHSPGPTRTVSI----- -GTSRSAEGAKNYLEHEELTV
Mouse KEMKNCPTPTRTDPI----- -SLSNCTEDARSCAEFEELTV
Rat KEMRNSAGPTRTDSI----- -SMGKCTEDARTCVEFEELTV
Pig KEIKTSPGPIRTDSI----- -DTSKSAEGTRNYLEFEELTV
Chicken ENQDNSSEMASNIAV----- -YIRSKSADESKNLESEELTV
Xenopus laevis NEEKANKILSDHNIS----- -YRTNSIKEEGGGTEPEEVAI
Zebrafish KDLSSVPEASAFSMP----- ------------KAESEEQTV
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.
Type Positions Description
1 – 577 Optineurin
198 – 198 Phosphoserine
210 – 215 Missing. In isoform 2.
Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains.
Li Y.; Kang J.; Horwitz M.S.;
Mol. Cell. Biol. 18:1601-1610(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 3); VARIANTS SER-201; HIS-213; ARG-216 AND PRO-357; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; INDUCTION; INTERACTION WITH ADENOVIRUS E3;
Adult-onset primary open-angle glaucoma caused by mutations in optineurin.
Rezaie T.; Child A.; Hitchings R.; Brice G.; Miller L.; Coca-Prados M.; Heon E.; Krupin T.; Ritch R.; Kreutzer D.; Crick R.P.; Sarfarazi M.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANTS GLC1E LYS-50 AND GLN-545; VARIANTS LYS-98; SER-201; HIS-213; ARG-216 AND PRO-357;
Human FIP-2: genomic structure and mutational analysis in ARVD patients.
Li D.; Roberts R.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS SER-201; HIS-213; ARG-216 AND PRO-357;
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.