Variant position: 172 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 543 The length of the canonical sequence.
Location on the sequence:
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 FPHGQT-----YWYLLFYCLFETMV TCFHVPYSALTMFISTEQTER
Mouse FPSGTESSHGFLWYLLFYCLFETLV TCFHVPYSALTMFIST
Xenopus tropicalis FSGVSM----VIWYLVFYCLFQTLV TCFHVPYSALTMFISK
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
1 – 543 Sodium-dependent lysophosphatidylcholine symporter 1
161 – 181 Helical
1 – 186 MAKGEGAESGSAAGLLPTSILQSTERPAQVKKEPKKKKQQLSVCNKLCYALGGAPYQVTGCALGFFLQIYLLDVAQKDEEVVFCFSSFQVGPFSASIILFVGRAWDAITDPLVGLCISKSPWTCLGRLMPWIIFSTPLAVIAYFLIWFVPDFPHGQTYWYLLFYCLFETMVTCFHVPYSALTMFIS -> MWLRWALSLPPSSCLWAEPGMPSQTPWWASASANPPGPAWVALCPGSSSPRPWPSLPTSSSGSCPTSHTARPIGTCFSIASLKQWSRVSMFPTRLSPCSSA. In isoform 3.
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.
Guemez-Gamboa A.; Nguyen L.N.; Yang H.; Zaki M.S.; Kara M.; Ben-Omran T.; Akizu N.; Rosti R.O.; Rosti B.; Scott E.; Schroth J.; Copeland B.; Vaux K.K.; Cazenave-Gassiot A.; Quek D.Q.; Wong B.H.; Tan B.C.; Wenk M.R.; Gunel M.; Gabriel S.; Chi N.C.; Silver D.L.; Gleeson J.G.;
Nat. Genet. 47:809-813(2015)
Cited for: INVOLVEMENT IN MCPH15; VARIANTS MCPH15 MET-172 AND LEU-179; CHARACTERIZATION OF VARIANTS MCPH15 MET-172 AND LEU-179; FUNCTION; SUBCELLULAR LOCATION;
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.