UniProtKB/Swiss-Prot Q9Y5Y0: Variant p.Gly493Arg

Choline/ethanolamine transporter FLVCR1
Gene: FLVCR1
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Variant information Variant position:

493 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 493 (G493R, p.Gly493Arg). 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 RETSNS; uncertain significance; abolished localization to the plasma membrane, leading to decreased heme exporter activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1558121050 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

FGILFTLAQGKLTSDYGPKA G NIFLCVWMFIGIILTALIKS 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                         FGILFTLAQGKLTSDYG-PKAGNIFLCVWMFIGIILTALIKS

Mouse                         LGIFFTLAQGKITTDYNSPEAGNIFLCAWMFVGIILTALIK

Cat                           FGILFTLAQGKLTTDYS-PKAGNIFLCVWLFLGIILTALIK

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 – 555	Choline/ethanolamine transporter FLVCR1
Transmembrane	490 – 512	Helical; Name=TM12
Helix	490 – 510

Literature citations
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.
Ishiura H.; Fukuda Y.; Mitsui J.; Nakahara Y.; Ahsan B.; Takahashi Y.; Ichikawa Y.; Goto J.; Sakai T.; Tsuji S.;
Neurogenetics 12:117-121(2011)
Cited for: VARIANT RETSNS ARG-493; Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity.
Yanatori I.; Yasui Y.; Miura K.; Kishi F.;
Blood Cells Mol. Dis. 49:60-66(2012)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS RETSNS ASP-121; ARG-192; THR-241 AND ARG-493;

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.