UniProtKB/Swiss-Prot Q9Y5Y0: Variant p.Thr249Ser

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

249 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 Threonine (T) to Serine (S) at position 249 (T249S, p.Thr249Ser). 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 medium size and polar (T) to small size and polar (S) 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:

Found in a patient with a mild phenotype consisting of hypotonia and sensory and motor neuropathy; uncertain significance. Any additional useful information about the variant.

Sequence information Variant position:

249 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:

FGPKEVSTACATAVLGNQLG T AVGFLLPPVLVPNTQNDTNL 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                         FGPKEVSTACATAVLGNQLGTAVGFLLPPVLVP------------NTQNDTNL

Mouse                         FGPKEVSTACATAVLGNQLGTAVGFLLPPVLVPALGTQNST

Cat                           FGPKEVSTACATAVLGNQLGAAIGFLLPPVLVP--------

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	234 – 259	Helical; Name=TM5
Glycosylation	265 – 265	N-linked (GlcNAc...) asparagine
Alternative sequence	1 – 276	Missing. In isoform 2.
Mutagenesis	245 – 245	N -> A. Slightly reduced transport of choline and ethanolamine.
Helix	234 – 259

Literature citations
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.
Calame D.G.; Wong J.H.; Panda P.; Nguyen D.T.; Leong N.C.P.; Sangermano R.; Patankar S.G.; Abdel-Hamid M.S.; AlAbdi L.; Safwat S.; Flannery K.P.; Dardas Z.; Fatih J.M.; Murali C.; Kannan V.; Lotze T.E.; Herman I.; Ammouri F.; Rezich B.; Efthymiou S.; Alavi S.; Murphy D.; Firoozfar Z.; Nasab M.E.; Bahreini A.; Ghasemi M.; Haridy N.A.; Goldouzi H.R.; Eghbal F.; Karimiani E.G.; Begtrup A.; Elloumi H.; Srinivasan V.M.; Gowda V.K.; Du H.; Jhangiani S.N.; Coban-Akdemir Z.; Marafi D.; Rodan L.; Isikay S.; Rosenfeld J.A.; Ramanathan S.; Staton M.; Oberg K.C.; Clark R.D.; Wenman C.; Loughlin S.; Saad R.; Ashraf T.; Male A.; Tadros S.; Boostani R.; Abdel-Salam G.M.H.; Zaki M.; Mardi A.; Hashemi-Gorji F.; Abdalla E.; Manzini M.C.; Pehlivan D.; Posey J.E.; Gibbs R.A.; Houlden H.; Alkuraya F.S.; Bujakowska K.; Maroofian R.; Lupski J.R.; Nguyen L.N.;
Genet. Med. 27:101273-101273(2025)
Cited for: VARIANTS NEDMISH VAL-253; ARG-305; PRO-328; ILE-340; 363-TYR--ILE-555 DEL; 390-LEU--ILE-555 DEL; 400-GLN--ILE-555 DEL; PRO-409; ALA-412; ASN-421 AND SER-464; INVOLVEMENT IN NEDMISH; CHARACTERIZATION OF VARIANTS NEDMISH ARG-305; ILE-340; PRO-409; ALA-412; ASN-421 AND SER-464; VARIANTS RETSNS ASN-128 AND VAL-168; CHARACTERIZATION OF VARIANT RETSNS ASN-128; VARIANTS ARG-192; SER-249 AND THR-343; CHARACTERIZATION OF VARIANT THR-343; FUNCTION; MUTAGENESIS OF MET-151 AND LEU-443;

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.