UniProtKB/Swiss-Prot Q86YT5: Variant p.Leu485Arg

Na(+)/citrate cotransporter
Gene: SLC13A5
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Variant information Variant position:

485 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Leucine (L) to Arginine (R) at position 485 (L485R, p.Leu485Arg). 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 hydrophobic (L) to large size and basic (R) 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:

No effect on localization to plasma membrane; reduced function in citrate transport; increased Km and Vmax values compared with that of wild type with citrate as substrate. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs148049520 [ dbSNP | Ensembl ]

Sequence information Variant position:

485 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

568 The length of the canonical sequence.
Location on the sequence:

NVATTTLFLPIFASMSRSIG L NPLYIMLPCTLSASFAFMLP 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                         NVATTTLFLPIFASMSRSIGLNPLYIMLPCTLSASFAFMLP

Mouse                         NVATTTLFLPIFASMARSIGIHPLYVMIPCTMSASLAFMLP

Rat                           NVATTTLFLPIFASMARSIGIHPLYVMIPCTLSASLAFMLP

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
Chain	1 – 568	Na(+)/citrate cotransporter
Topological domain	479 – 486	Extracellular
Binding site	465 – 465
Alternative sequence	479 – 524	Missing. In isoform 2.

Literature citations
Analysis of naturally occurring mutations in the human uptake transporter NaCT important for bone and brain development and energy metabolism.
Selch S.; Chafai A.; Sticht H.; Birkenfeld A.L.; Fromm M.F.; Koenig J.;
Sci. Rep. 8:11330-11330(2018)
Cited for: CHARACTERIZATION OF VARIANTS DEE25 ARG-219; MET-227 AND PRO-488; CHARACTERIZATION OF VARIANTS GLU-219; ASN-243; PRO-420 AND ARG-485; FUNCTION; TRANSPORT ACTIVITY; SUBCELLULAR LOCATION; BIOPHYSICOCHEMICAL PROPERTIES;

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.