Variant position: 441 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 492 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 SHFSANWIFALAGGMFLYIS LADMFPEMNEVCQEDERKG--SI
Mouse SHFSANWIFALAGGMFLYIA LADMFPEMNEVCQEDEKND--
Bovine SHFSANWIFALAGGMFLYIS LADMFPEMNEVSQEDERKG--
Xenopus tropicalis SHFSSNWIFALAGGMFLYIA LSDMFPEMNEVSKEDEEGG--
Zebrafish NNFSPNWIFALAGGMFLYIA LADMFPEMNEVSREEEEAGGS
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
31 – 492 Zinc transporter ZIP14
425 – 445 Helical
Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis.
Hendrickx G.; Borra V.M.; Steenackers E.; Yorgan T.A.; Hermans C.; Boudin E.; Waterval J.J.; Jansen I.D.C.; Aydemir T.B.; Kamerling N.; Behets G.J.; Plumeyer C.; D'Haese P.C.; Busse B.; Everts V.; Lammens M.; Mortier G.; Cousins R.J.; Schinke T.; Stokroos R.J.; Manni J.J.; Van Hul W.;
PLoS Genet. 14:E1007321-E1007321(2018)
Cited for: INVOLVEMENT IN HCIN; VARIANT HCIN ARG-441; CHARACTERIZATION OF VARIANT HCIN ARG-441; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;
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.