Variant position: 561 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 649 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 FANFSSIGIMLGGLTSMVPQ RKSDFSQIVLRALFTGACVSL
Rat FANFSSIGIMLGGLTSLVPQ RRSDFSQIVLRALITGAFVSL
Pig FANFSSIGIMLGGLTSMVPQ RKGDFSQIVLRALCTGACVSL
Rabbit FANLSSIGITLGGLTSMVPH RKSDLSKVVIRALFTGSCVSF
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 – 649 Sodium/nucleoside cotransporter 1
559 – 569 Cytoplasmic
176 – 649 Missing. In isoform 2.
546 – 546 S -> ACRT. Unable to mediate sodium-dependent transport of uridine.
546 – 546 Missing. Unable to mediate sodium-dependent transport of uridine.
Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure.
Perez-Torras S.; Mata-Ventosa A.; Droegemoeller B.; Tarailo-Graovac M.; Meijer J.; Meinsma R.; van Cruchten A.G.; Kulik W.; Viel-Oliva A.; Bidon-Chanal A.; Ross C.J.; Wassermann W.W.; van Karnebeek C.D.M.; Pastor-Anglada M.; van Kuilenburg A.B.P.;
Biochim. Biophys. Acta 1865:1182-1191(2019)
Cited for: INVOLVEMENT IN URCTU; VARIANTS URCTU CYS-510 AND GLN-561; CHARACTERIZATION OF VARIANTS URCTU CYS-510 AND GLN-561;
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.