Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q0GE19: Variant p.Leu74Pro

Sodium/bile acid cotransporter 7
Gene: SLC10A7
Feedback?
Variant information Variant position: help 74 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 Leucine (L) to Proline (P) at position 74 (L74P, p.Leu74Pro). 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 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: help -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: help In SSASKS; decreased protein levels; decreased expression at the cell membrane. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 74 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 340 The length of the canonical sequence.
Location on the sequence: help SGLSLKTEELTSALVHLKLH L FIQIFTLAFFPATIWLFLQL 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                         SGLSLKTEELTSALVHLKLHLFIQIFTLAFFPATIWLFLQL

Mouse                         SGLSLKTEELTSALVHLRLHLFIQIFTLAFFPAAIWLFLQL

Rat                           SGLSLKTEELTSALVHLKLHLFIQVFTLAFFPTTIWLFLQL

Chicken                       SGLSLKTEELTSALMHVKLHLFVQIFTLVFFPTAIWLFLQL

Xenopus tropicalis            SGLSLKTEELTNALMHVKLHLFVQLFTLVFFPTAIWVFLQV

Zebrafish                     SGLSLKTEELASALMHVKLHFFVQTFTLVFFPIAIWLLLKV
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 – 340 Sodium/bile acid cotransporter 7
Transmembrane 72 – 92 Helical
Alternative sequence 62 – 85 ELTSALVHLKLHLFIQIFTLAFFP -> FADSRLHASACVFCSDFNQGSWWK. In isoform 7.
Alternative sequence 62 – 62 E -> L. In isoform 6.
Alternative sequence 65 – 340 Missing. In isoform 6.



Literature citations
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.
Dubail J.; Huber C.; Chantepie S.; Sonntag S.; Tueysuez B.; Mihci E.; Gordon C.T.; Steichen-Gersdorf E.; Amiel J.; Nur B.; Stolte-Dijkstra I.; van Eerde A.M.; van Gassen K.L.; Breugem C.C.; Stegmann A.; Lekszas C.; Maroofian R.; Karimiani E.G.; Bruneel A.; Seta N.; Munnich A.; Papy-Garcia D.; De La Dure-Molla M.; Cormier-Daire V.;
Nat. Commun. 9:3087-3087(2018)
Cited for: FUNCTION; SUBCELLULAR LOCATION; DEVELOPMENTAL STAGE; INVOLVEMENT IN SSASKS; VARIANTS SSASKS PRO-74; ARG-130 AND 185-GLN--VAL-340 DEL; CHARACTERIZATION OF VARIANT SSASKS PRO-74;
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.