Variant position: 336 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 LGVEAVVIFLGVKLLSKKIG ERAILLGGLIVVWVGFFILLP
Mouse FGVEAVLVFMGVKLLSKKIG ERAILLGGFVVVWVGFFILLP
Xenopus laevis VGVESVIVFLTVKILCKKTG ERVLLLGGLAVIWIGFFILLP
Zebrafish IGFESILVFLVVKVVSARVG DRPLLLGGLILIFVGFFMLLP
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
326 – 337 Cytoplasmic
237 – 518 Missing. In isoform 2.
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.
Roosing S.; van den Born L.I.; Sangermano R.; Banfi S.; Koenekoop R.K.; Zonneveld-Vrieling M.N.; Klaver C.C.; van Lith-Verhoeven J.J.; Cremers F.P.; den Hollander A.I.; Hoyng C.B.;
Cited for: INVOLVEMENT IN CCMD; VARIANT CCMD GLN-336;
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.