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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q02763: Variant p.Cys233Tyr

Angiopoietin-1 receptor
Gene: TEK
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Variant information Variant position: help 233 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Cysteine (C) to Tyrosine (Y) at position 233 (C233Y, p.Cys233Tyr). 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: help Change from medium size and polar (C) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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: help In GLC3E; enhanced proteasomal degradation. Any additional useful information about the variant.


Sequence information Variant position: help 233 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1124 The length of the canonical sequence.
Location on the sequence: help AQKWGPECNHLCTACMNNGV C HEDTGECICPPGFMGRTCEK 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         AQKWGPECNHLCTACMNNGVCHEDTGECICPPGFMGRTCEK

Mouse                         AQKWGPDCSRPCTTCKNNGVCHEDTGECICPPGFMGRTCEK

Bovine                        AQKWGPECNRICTACMNNGICHEDTGECICPPGFMGRTCEK

Zebrafish                     AGFWGPNCTESCPRCANGGVCDDTTGECVCPPGFRGHTCDI
Sequence annotation in neighborhood: help 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 23 – 1124 Angiopoietin-1 receptor
Topological domain 23 – 748 Extracellular
Domain 210 – 252 EGF-like 1
Disulfide bond 224 – 233
Disulfide bond 227 – 240
Mutagenesis 224 – 224 C -> S. Reduces protein abundance.



Literature citations
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.
Souma T.; Tompson S.W.; Thomson B.R.; Siggs O.M.; Kizhatil K.; Yamaguchi S.; Feng L.; Limviphuvadh V.; Whisenhunt K.N.; Maurer-Stroh S.; Yanovitch T.L.; Kalaydjieva L.; Azmanov D.N.; Finzi S.; Mauri L.; Javadiyan S.; Souzeau E.; Zhou T.; Hewitt A.W.; Kloss B.; Burdon K.P.; Mackey D.A.; Allen K.F.; Ruddle J.B.; Lim S.H.; Rozen S.; Tran-Viet K.N.; Liu X.; John S.; Wiggs J.L.; Pasutto F.; Craig J.E.; Jin J.; Quaggin S.E.; Young T.L.;
J. Clin. Invest. 126:2575-2587(2016)
Cited for: INVOLVEMENT IN GLC3E; VARIANTS GLC3E 19-THR--ARG-210 DEL; TYR-233; ASN-294 AND CYS-611; CHARACTERIZATION OF VARIANTS GLC3E 19-THR--ARG-210 DEL; TYR-233; ASN-294 AND CYS-611; SUBCELLULAR LOCATION; MUTAGENESIS OF CYS-224;
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.