Variant position: 204 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 460 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 EAFGFDPKVDSYVEKAVAVF GGFYLLFFFERMLKMLLKTYG
Mouse EAFGFNPKIDNYVEKAVAVF GGFYMLFFVERTLKMLLKTYG
Rat EAFGFNPKIDNYVEKAVAVF GGFYMLFFVERTLKMLLKTYG
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
23 – 460 Metal cation symporter ZIP8
192 – 212 Helical
SLC39A8 deficiency: a disorder of manganese transport and glycosylation.
Park J.H.; Hogrebe M.; Grueneberg M.; DuChesne I.; von der Heiden A.L.; Reunert J.; Schlingmann K.P.; Boycott K.M.; Beaulieu C.L.; Mhanni A.A.; Innes A.M.; Hoertnagel K.; Biskup S.; Gleixner E.M.; Kurlemann G.; Fiedler B.; Omran H.; Rutsch F.; Wada Y.; Tsiakas K.; Santer R.; Nebert D.W.; Rust S.; Marquardt T.;
Am. J. Hum. Genet. 97:894-903(2015)
Cited for: VARIANTS CDG2N MET-33; ARG-38; CYS-204; THR-335 AND ASN-340;
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