Sequence information
Variant position: 352 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:
CTYTLGFRNEFQNLLLAIML
S ATLTIPIWQWFLTRFGKKTA
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 CTYTLGFRNEFQNLLLAIMLS ATLTIPIWQWFLTRFGKKTA
Mouse CTYTLDFRNEFQNLLLAIMLS ATFTIPIWQWFLTRFGKKTA
Xenopus tropicalis LTYTMGFRRDFQNILLVVMLS ATLTVPFWQWFLTRFGKKTA
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 – 543
Sodium-dependent lysophosphatidylcholine symporter 1
Transmembrane
345 – 363
Helical
Disulfide bond
225 – 473
Mutagenesis
334 – 334
Y -> A. Does not affect lysophosphatidylcholine (LPC) transport.
Mutagenesis
339 – 339
R -> A. Reduced lysophosphatidylcholine (LPC) transport.
Mutagenesis
342 – 342
F -> A. Abolished lysophosphatidylcholine (LPC) transport.
Mutagenesis
346 – 346
L -> A. Abolished lysophosphatidylcholine (LPC) transport.
Mutagenesis
349 – 349
I -> A. Reduced lysophosphatidylcholine (LPC) transport.
Mutagenesis
350 – 350
M -> A. Reduced lysophosphatidylcholine (LPC) transport.
Mutagenesis
357 – 357
I -> A. Does not affect lysophosphatidylcholine (LPC) transport.
Mutagenesis
357 – 357
I -> W. Abolished lysophosphatidylcholine (LPC) transport.
Mutagenesis
361 – 361
Q -> W. Reduced lysophosphatidylcholine (LPC) transport.
Literature citations
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome.
Alakbarzade V.; Hameed A.; Quek D.Q.; Chioza B.A.; Baple E.L.; Cazenave-Gassiot A.; Nguyen L.N.; Wenk M.R.; Ahmad A.Q.; Sreekantan-Nair A.; Weedon M.N.; Rich P.; Patton M.A.; Warner T.T.; Silver D.L.; Crosby A.H.;
Nat. Genet. 47:814-817(2015)
Cited for: INVOLVEMENT IN NEDMISBA; VARIANT NEDMISBA LEU-352; CHARACTERIZATION OF VARIANT NEDMISBA LEU-352;
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.