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UniProtKB/Swiss-Prot Q96CV9: Variant p.Lys213His

Optineurin
Gene: OPTN
Chromosomal location: 10p14-p15
Variant information

Variant position:  213
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Lysine (K) to Histidine (H) at position 213 (K213H, p.Lys213His).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (K) to medium size and polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  Requires 2 nucleotide substitutions.
Any additional useful information about the variant.



Sequence information

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:   KEIKHSPGPTRTVSTGTALS  K YRSRSADGAKNYFEHEELTV
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                         KEIKHSPGPTRTVSTGTALSKYRSRSADGAKNYFEHEELTV

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.

TypePositionsDescription
Chain 1 – 577 Optineurin
Modified residue 198 – 198 Phosphoserine
Alternative sequence 210 – 215 Missing. In isoform 2.


Literature citations

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.;
Science 295:1077-1079(2002)
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;

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.