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UniProtKB/Swiss-Prot P13987: Variant p.Cys89Tyr

CD59 glycoprotein
Gene: CD59
Variant information

Variant position:  89
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Cysteine (C) to Tyrosine (Y) at position 89 (C89Y, p.Cys89Tyr).
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 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:  -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:  In HACD59.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  89
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  128
The length of the canonical 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.



Pig                           ECNFDFISRNLAEKKLKYNCCRKDLCN-------KSDATIS


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.

Chain 26 – 102 CD59 glycoprotein
Domain 26 – 108 UPAR/Ly6
Lipidation 102 – 102 GPI-anchor amidated asparagine
Glycosylation 76 – 76 O-linked (GalNAc...) threonine
Glycosylation 77 – 77 O-linked (GalNAc...) threonine
Disulfide bond 89 – 94
Mutagenesis 69 – 69 H -> Q. Loss of glycation mediated inactivation.
Mutagenesis 72 – 72 F -> E. Almost complete loss of function. Lysis.
Mutagenesis 78 – 78 R -> E. Loss of function. Lysis.
Mutagenesis 79 – 79 L -> D. No loss of function.
Mutagenesis 81 – 81 E -> R. Almost complete loss of function. Lysis.
Mutagenesis 82 – 82 N -> K. No loss of function.
Mutagenesis 87 – 87 Y -> R. No loss of function.
Beta strand 85 – 89

Literature citations

CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy.
Nevo Y.; Ben-Zeev B.; Tabib A.; Straussberg R.; Anikster Y.; Shorer Z.; Fattal-Valevski A.; Ta-Shma A.; Aharoni S.; Rabie M.; Zenvirt S.; Goldshmidt H.; Fellig Y.; Shaag A.; Mevorach D.; Elpeleg O.;
Blood 121:129-135(2013)
Cited for: VARIANT HACD59 TYR-89;

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.