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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q08357: Variant p.Ser637Arg

Sodium-dependent phosphate transporter 2
Gene: SLC20A2
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Variant information Variant position: help 637 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 Serine (S) to Arginine (R) at position 637 (S637R, p.Ser637Arg). 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 small size and polar (S) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In IBGC1; loss of sodium-dependent phosphate transport but no effect on cell membrane localization. Any additional useful information about the variant.


Sequence information Variant position: help 637 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 652 The length of the canonical sequence.
Location on the sequence: help RLFRNIFVAWFVTVPVAGLF S AAVMALLMYGILPYV 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                         RLFRNIFVAWFVTVPVAGLFSAAVMALLMY--GILPYV-

Mouse                         RLFRNIFVAWFVTVPVAGLFSAAIMALLMYICGLFS

Rat                           RLFRNIFIAWFVTVPVAGLFSAAIMALLMYICGFVS

Bovine                        RLFRNIFVAWFVTVPVAGLFSAAIMALLIH--GILP

Cat                           RLFRNIFVAWFVTVPVAGLFSAAIMALLMY--GILP

Xenopus laevis                RLFRNIFLAWFVTVPVAGLFSAGVMAILQY--GILP

Xenopus tropicalis            RLFRNIFLAWFVTVPVAGLFSAGVMAILQY--GILP
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 1 – 652 Sodium-dependent phosphate transporter 2
Transmembrane 622 – 642 Helical



Literature citations
Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan.
Yamada M.; Tanaka M.; Takagi M.; Kobayashi S.; Taguchi Y.; Takashima S.; Tanaka K.; Touge T.; Hatsuta H.; Murayama S.; Hayashi Y.; Kaneko M.; Ishiura H.; Mitsui J.; Atsuta N.; Sobue G.; Shimozawa N.; Inuzuka T.; Tsuji S.; Hozumi I.;
Neurology 82:705-712(2014)
Cited for: VARIANTS IBGC1 VAL-51; HIS-71; MET-115 AND ARG-637; SLC20A2 variants cause dysfunctional phosphate transport activity in endothelial cells induced from Idiopathic Basal Ganglia Calcification patients-derived iPSCs.
Sekine S.I.; Nishii K.; Masaka T.; Kurita H.; Inden M.; Hozumi I.;
Biochem. Biophys. Res. Commun. 510:303-308(2019)
Cited for: CHARACTERIZATION OF VARIANTS IBGC1 MET-115 AND ARG-637; FUNCTION AS SODIUM-PHOSPHATE SYMPORTER; TRANSPORTER ACTIVITY; SUBCELLULAR LOCATION;
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.