UniProtKB/Swiss-Prot Q0GE19: Variant p.Gly130Arg

Sodium/bile acid cotransporter 7
Gene: SLC10A7
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Variant information Variant position:

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

US 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 Arginine (R) at position 130 (G130R, p.Gly130Arg). 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 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:

In SSASKS; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1560973467 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

TVGCMPPPVSSAVILTKAVG G NEAAAIFNSAFGSFLGIVIT 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                         TVGCMPPPVSSAVILTKAVGGNEAAAIFNSAFGSFLGIVIT

Mouse                         TVGCMPPPVSSAVILTKAVGGNEAAAIFNSAFGSFLGIVVT

Rat                           TVGCMPPPVSSAVILTKAVGGNEAAAIFNSAFGSFLGIVVT

Chicken                       TVGCMPPPVSSAVILTKAVGGNEAAAIFNSAFGSFL-----

Xenopus tropicalis            TVSCMPPPVSSAVILTKAVGGNEAAAIFNSAFGSFLGIVVT

Zebrafish                     TVACMPPPVSSAVILTKAVGGNEAAAIFNSAFGSFLGIVVT

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 – 340	Sodium/bile acid cotransporter 7
Transmembrane	117 – 137	Helical
Topological domain	138 – 138	Cytoplasmic
Alternative sequence	65 – 340	Missing. In isoform 6.
Alternative sequence	86 – 340	Missing. In isoform 7.

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.