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UniProtKB/Swiss-Prot P31641: Variant p.Gly399Val

Sodium- and chloride-dependent taurine transporter
Gene: SLC6A6
Variant information

Variant position:  399
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Glycine (G) to Valine (V) at position 399 (G399V, p.Gly399Val).
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 glycine (G) to medium size and hydrophobic (V)
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

Variant description:  Probable disease-associated variant found in patients with childhood retinal degeneration and cardiomyopathy; decreased taurine transport activity; does not affect protein abundance; does not affect cell membrane localization.
Any additional useful information about the variant.



Sequence information

Variant position:  399
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  620
The length of the canonical sequence.

Location on the sequence:   TMMPLPTFWSILFFIMLLLL  G LDSQFVEVEGQITSLVDLYP
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                         TMMPLPTFWSILFFIMLLLLGLDSQFVEVEGQITSLVDLYP

                              TMMPLPTFWSILFFIMLLLLGLDSQFVEVEGQVTSLVDLYP

Mouse                         TMMPLPTFWSILFFIMLLLLGLDSQFVEVEGQITSLVDLYP

Rat                           TMMPLPTFWSILFFIMLLLLGLDSQFVEVEGQITSLVDLYP

Bovine                        TMMPLPTFWSILFFIMLLLLGLDSQFVEVEGQITSLVDLHP

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.

TypePositionsDescription
Chain 1 – 620 Sodium- and chloride-dependent taurine transporter
Transmembrane 381 – 400 Helical; Name=8
Alternative sequence 201 – 620 Missing. In isoform 2.


Literature citations

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.
Ansar M.; Ranza E.; Shetty M.; Paracha S.A.; Azam M.; Kern I.; Iwaszkiewicz J.; Farooq O.; Pournaras C.J.; Malcles A.; Kecik M.; Rivolta C.; Muzaffar W.; Qurban A.; Ali L.; Aggoun Y.; Santoni F.A.; Makrythanasis P.; Ahmed J.; Qamar R.; Sarwar M.T.; Henry L.K.; Antonarakis S.E.;
Hum. Mol. Genet. 29:618-623(2020)
Cited for: FUNCTION; SUBCELLULAR LOCATION; VARIANT VAL-399; CHARACTERIZATION OF VARIANT VAL-399;

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.