Sequence information
Variant position: 412 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:
EDDNERPTGCSIEQAWCLYT
P VIHLAQFLTSAVLIGLGYPV
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 E---DDNERPTGCSIEQAWCLYTP VIHLAQFLTSAVLIGLGYPV
Mouse E---DHSEQPTGCPIEQTWCLYTP VIHLAQFLTAAVLIGTG
Xenopus laevis PSSGNHSVEPTGCPVIQTWCLYTP VIHLAQYLTSDILIGVG
Zebrafish S---NSSLEPIGCPSEQTWCLFTP VIHLAQYITSDILIGVG
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
359 – 412
Extracellular
Alternative sequence
237 – 518
Missing. In isoform 2.
Literature citations
Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.
Aldahmesh M.A.; Al-Hassnan Z.N.; Aldosari M.; Alkuraya F.S.;
Neurogenetics 10:307-311(2009)
Cited for: VARIANT CLN7 LEU-412;
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.