UniProtKB/Swiss-Prot Q8N695: Variant p.Val193Ile

Sodium-coupled monocarboxylate transporter 1
Gene: SLC5A8
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Variant information Variant position:

193 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 Valine (V) to Isoleucine (I) at position 193 (V193I, p.Val193Ile). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

3 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
Other resources:

Links to websites of interest for the variant.

Variant rs1709189 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

CTFYCTLGGLKAVIWTDVFQ V GIMVAGFASVIIQAVVMQGG 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                         CTFYCTLGGLKAVIWTDVFQVGIMVAGFASVIIQAVVMQGG

Mouse                         CTFYCTLGGLKAVVWTDVFQVGIMVAGFASVIIQASITQHG

Xenopus laevis                CTFYCTMGGLKAVVWTDVFQVGIMVAGFTSVIIRAVVVQGG

Xenopus tropicalis            CTFYCTMGGLKAVVWTDVFQVGIMVAGFSSVIIRAVVVQGG

Zebrafish                     CIIYCTLGGLKAVIWTDVFQMIIMLGGFVAVIARGAVLQGG

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 – 610	Sodium-coupled monocarboxylate transporter 1
Transmembrane	190 – 210	Helical
Helix	187 – 211

Literature citations
SLC5A8, a sodium transporter, is a tumor suppressor gene silenced by methylation in human colon aberrant crypt foci and cancers.
Li H.; Myeroff L.; Smiraglia D.; Romero M.F.; Pretlow T.P.; Kasturi L.; Lutterbaugh J.; Rerko R.M.; Casey G.; Issa J.-P.; Willis J.; Willson J.K.; Plass C.; Markowitz S.D.;
Proc. Natl. Acad. Sci. U.S.A. 100:8412-8417(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANT ILE-193; FUNCTION; INDUCTION; TISSUE SPECIFICITY; Functional identification of SLC5A8, a tumor suppressor down-regulated in colon cancer, as a Na(+)-coupled transporter for short-chain fatty acids.
Miyauchi S.; Gopal E.; Fei Y.-J.; Ganapathy V.;
J. Biol. Chem. 279:13293-13296(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; TISSUE SPECIFICITY; STOICHIOMETRY; VARIANTS ILE-193 AND VAL-251; 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.