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.
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 HCNFNDVTTRLRENELTYYC CKKDLCN--FNEQLENGGTSLSE
Rat DCNAKFILSRLEIANVQYRC CQADLCNKSFEDKPNNGAISL
Pig ECNFDFISRNLAEKKLKYNC CRKDLCN-------KSDATIS
Rabbit DCNFEFISNRLEENSLKYNC CRKDLCN-----GPEDDGTAL
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
26 – 102 CD59 glycoprotein
26 – 108 UPAR/Ly6
102 – 102 GPI-anchor amidated asparagine
76 – 76 O-linked (GalNAc...) threonine
77 – 77 O-linked (GalNAc...) threonine
89 – 94
69 – 69 H -> Q. Loss of glycation mediated inactivation.
72 – 72 F -> E. Almost complete loss of function. Lysis.
78 – 78 R -> E. Loss of function. Lysis.
79 – 79 L -> D. No loss of function.
81 – 81 E -> R. Almost complete loss of function. Lysis.
82 – 82 N -> K. No loss of function.
87 – 87 Y -> R. No loss of function.
85 – 89
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.;
Cited for: VARIANT HACD59 TYR-89;
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