Variant position: 429 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 518 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 LYTPVIHLAQFLTSAVLIGL GYPVCNLMSYTLYSKILGPKP
Mouse LYTPVIHLAQFLTAAVLIGT GYPACSVMSYTLYSKVLGPKP
Xenopus laevis LYTPVIHLAQYLTSDILIGV GYPICNVMSYTLYSKIIGPKP
Zebrafish LFTPVIHLAQYITSDILIGV GYPTCNVMSYTLYSKILGPKP
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 – 518 Major facilitator superfamily domain-containing protein 8
413 – 433 Helical
237 – 518 Missing. In isoform 2.
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.
Siintola E.; Topcu M.; Aula N.; Lohi H.; Minassian B.A.; Paterson A.D.; Liu X.-Q.; Wilson C.; Lahtinen U.; Anttonen A.-K.; Lehesjoki A.-E.;
Am. J. Hum. Genet. 81:136-146(2007)
Cited for: VARIANTS CLN7 ASP-310 AND ASP-429; CHARACTERIZATION OF VARIANTS CLN7 ASP-310 AND ASP-429; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;
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.