Sequence information
Variant position: 413 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 540 The length of the canonical sequence.
Location on the sequence:
LHNLTDGLAIGAAFSDGFSS
G LSTTLAVFCHELPHELGDFA
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 LHNLTDGLAIGAAFSDGFSSG LSTTLAVFCHELPHELGDFA
Mouse LHNLTDGLALGAAFSDGFSSG LSTTLAVFCHELPHELGDFA
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
21 – 540
Zinc transporter ZIP5
Topological domain
309 – 444
Cytoplasmic
Literature citations
Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.
Jiang D.; Li J.; Xiao X.; Li S.; Jia X.; Sun W.; Guo X.; Zhang Q.;
Invest. Ophthalmol. Vis. Sci. 56:339-345(2015)
Cited for: VARIANT MYP24 ALA-413;
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.