Sequence information
Variant position: 310 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:
ITPLTMDMYAWTQEQAVLYN
G IILAALGVEAVVIFLGVKLL
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 ITPLTMDMYAWTQEQAVLYNG IILAALGVEAVVIFLGVKLL
Mouse LTPLTLDMYAWTQEQAVLYDG ILLVAFGVEAVLVFMGVKLL
Xenopus laevis STPLTMDMYAWTRTQAVFYNG IILAAVGVESVIVFLTVKIL
Zebrafish STPLSMDMFAWTRKEAVLYNG IILAAIGFESILVFLVVKVV
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 – 518
Major facilitator superfamily domain-containing protein 8
Transmembrane
305 – 325
Helical
Alternative sequence
237 – 518
Missing. In isoform 2.
Literature citations
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;
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
Kousi M.; Siintola E.; Dvorakova L.; Vlaskova H.; Turnbull J.; Topcu M.; Yuksel D.; Gokben S.; Minassian B.A.; Elleder M.; Mole S.E.; Lehesjoki A.-E.;
Brain 132:810-819(2009)
Cited for: VARIANTS CLN7 HIS-139; PRO-157; LYS-294; ASP-310 AND TRP-465;
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
Aiello C.; Terracciano A.; Simonati A.; Discepoli G.; Cannelli N.; Claps D.; Crow Y.J.; Bianchi M.; Kitzmuller C.; Longo D.; Tavoni A.; Franzoni E.; Tessa A.; Veneselli E.; Boldrini R.; Filocamo M.; Williams R.E.; Bertini E.S.; Biancheri R.; Carrozzo R.; Mole S.E.; Santorelli F.M.;
Hum. Mutat. 30:E530-E540(2009)
Cited for: VARIANTS CLN7 ARG-52; LYS-294; ASP-310 AND LEU-447;
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.