Sequence information
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:
LGVEAVVIFLGVKLLSKKIG
E RAILLGGLIVVWVGFFILLP
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 LGVEAVVIFLGVKLLSKKIGE RAILLGGLIVVWVGFFILLP
Mouse FGVEAVLVFMGVKLLSKKIGE RAILLGGFVVVWVGFFILLP
Xenopus laevis VGVESVIVFLTVKILCKKTGE RVLLLGGLAVIWIGFFILLP
Zebrafish IGFESILVFLVVKVVSARVGD RPLLLGGLILIFVGFFMLLP
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
Topological domain
326 – 337
Cytoplasmic
Alternative sequence
237 – 518
Missing. In isoform 2.
Literature citations
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.;
Ophthalmology 122:170-179(2015)
Cited for: INVOLVEMENT IN CCMD; VARIANT CCMD GLN-336;
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.