Variant position: 391 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 LSACSCYVGLAFGILVGNNF APNIIFALAGGMFLYISLADM
Mouse LSACSCYVGLAFGILVGNNF APNIIFALAGGMFLYISLADM
Rat LSACSCYVGLAFGILVGNNF APNIIFALAGGMFLYISLADM
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
389 – 409 Helical
Hepatic metal ion transporter ZIP8 regulates manganese homeostasis and manganese-dependent enzyme activity.
Lin W.; Vann D.R.; Doulias P.T.; Wang T.; Landesberg G.; Li X.; Ricciotti E.; Scalia R.; He M.; Hand N.J.; Rader D.J.;
J. Clin. Invest. 127:2407-2417(2017)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANT THR-391;
A blood pressure-associated variant of the SLC39A8 gene influences cellular cadmium accumulation and toxicity.
Zhang R.; Witkowska K.; Afonso Guerra-Assuncao J.; Ren M.; Ng F.L.; Mauro C.; Tucker A.T.; Caulfield M.J.; Ye S.;
Hum. Mol. Genet. 25:4117-4126(2016)
Cited for: FUNCTION; CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANT THR-391;
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.