Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q06495: Variant p.Ala48Phe

Sodium-dependent phosphate transport protein 2A
Gene: SLC34A1
Feedback?
Variant information Variant position: help 48 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 Alanine (A) to Phenylalanine (F) at position 48 (A48F, p.Ala48Phe). 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 hydrophobic (A) to large size and aromatic (F) 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 NPHLOP1; causes hypophosphatemic urolithiasis; results in lower phosphate current, decreases affinity for phosphate and decreases phosphate uptake compared to wild-type; shows a dominant-negative effect; requires 2 nucleotide substitutions. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 48 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 639 The length of the canonical sequence.
Location on the sequence: help AFAYVPSPQVLHRIPGTSAY A FPSLGPVALAEHTCPCGEVL 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                         AFAYVPSPQVLHRIPGTSAYAFPSLGPVALAEHTCPCGEVL

Mouse                         TFAYVPSPQVLHRIPGTSTYAISSLSPVTLTEHSCPCGEVL

Rat                           AFAYVPSPQVLHRIPGTTTYAISSLSPVALTEHSCPYGEVL

Rabbit                        TFAYVPSPQALHRIPGTSAYAFPSLSPVALTEHGCPYGEAR

Sheep                         AFAYVPSPQVLHRIPGTSAYGFPSVGPMALPEHGCPYGEVV
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 – 639 Sodium-dependent phosphate transport protein 2A
Topological domain 1 – 103 Cytoplasmic
Modified residue 34 – 34 Phosphoserine



Literature citations
Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter.
Prie D.; Huart V.; Bakouh N.; Planelles G.; Dellis O.; Gerard B.; Hulin P.; Benque-Blanchet F.; Silve C.; Grandchamp B.; Friedlander G.;
N. Engl. J. Med. 347:983-991(2002)
Cited for: VARIANTS NPHLOP1 PHE-48 AND MET-147; CHARACTERIZATION OF VARIANTS NPHLOP1 PHE-48 AND MET-147; FUNCTION; TRANSPORTER ACTIVITY;
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.