Variant position: 113 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 TSSKFSVICPAVLQQLNFHP CEDRPKHKTRPSHSEVWGYGF
Mouse TSSNFSAICPAILQQLNFHP CEDLRKHNAKPSLSEVWGYGF
Rat TSSNFTAICPAILQQLNFHP CEDPQKHSVKPSFSEVWGYGF
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
23 – 132 Extracellular
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.
Riley L.G.; Cowley M.J.; Gayevskiy V.; Roscioli T.; Thorburn D.R.; Prelog K.; Bahlo M.; Sue C.M.; Balasubramaniam S.; Christodoulou J.;
J. Inherit. Metab. Dis. 40:261-269(2017)
Cited for: DISEASE; VARIANT SER-113; CHARACTERIZATION OF VARIANT SER-113;
Functional analysis of SLC39A8 mutations and their implications for manganese deficiency and mitochondrial disorders.
Choi E.K.; Nguyen T.T.; Gupta N.; Iwase S.; Seo Y.A.;
Sci. Rep. 8:3163-3163(2018)
Cited for: CHARACTERIZATION OF VARIANT CDG2N ARG-38; CHARACTERIZATION OF VARIANT SER-113; FUNCTION; CATALYTIC ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; INDUCTION;
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.