UniProtKB/Swiss-Prot Q9Y345: Variant p.Ala89Glu

Sodium- and chloride-dependent glycine transporter 2
Gene: SLC6A5
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Variant information Variant position:

89 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 Alanine (A) to Glutamate (E) at position 89 (A89E, p.Ala89Glu). 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 small size and hydrophobic (A) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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 subcellular location; no effect on glycine transport. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs61736602 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

ACEAERPGVGSCKLSSPRAQ A ASAALRDLREAQGAQASPPP 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                         ACEAERPGV-GSCKLSSPRAQAASAALRDLREAQGAQASPPP

Mouse                         ACEAQQSGV-GFCNLSSPRAQATSAALRDLSEGHSAQANPP

Rat                           ACEAQRPGV-GFCKLSSPQAQATSAALRDLSEGHSAQANPP

Xenopus laevis                ACDLERSRVGGSCKMTTP-GHSNFVLKRDSVEGCPAKNSSM

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 – 797	Sodium- and chloride-dependent glycine transporter 2
Topological domain	1 – 199	Cytoplasmic
Region	1 – 118	Disordered
Modified residue	84 – 84	Phosphoserine
Alternative sequence	1 – 234	Missing. In isoform 2.

Literature citations
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
Rees M.I.; Harvey K.; Pearce B.R.; Chung S.K.; Duguid I.C.; Thomas P.; Beatty S.; Graham G.E.; Armstrong L.; Shiang R.; Abbott K.J.; Zuberi S.M.; Stephenson J.B.; Owen M.J.; Tijssen M.A.; van den Maagdenberg A.M.; Smart T.G.; Supplisson S.; Harvey R.J.;
Nat. Genet. 38:801-806(2006)
Cited for: VARIANTS HKPX3 VAL-306; MET-425; CYS-482; CYS-491; SER-509 AND ARG-510; VARIANT GLU-89; CHARACTERIZATION OF VARIANTS HKPX3 VAL-306; MET-425; CYS-482; CYS-491; SER-509 AND ARG-510; CHARACTERIZATION OF VARIANT GLU-89; FUNCTION; TRANSPORTER 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.