Variant position: 57 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 521 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 LVSSLYKVIQEPQSELLEPV CHQLFEFYRSGEEQLLQFTLQ
Mouse LVTSLYKVIQEPQSELLEPV CHQLFEFYRSGEEQLLRFTLQ
Chicken LISSLYKVIQEPQSELLEPV CHQLFEFYRSGEEQLLRFTLQ
Zebrafish LVPALYKVIRENYSDLLEPV CHQLFEFYRSGEPRLQRFTLQ
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
1 – 521 Hyccin
1 – 341 Missing. In isoform 2.
54 – 65
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.
Baskin J.M.; Wu X.; Christiano R.; Oh M.S.; Schauder C.M.; Gazzerro E.; Messa M.; Baldassari S.; Assereto S.; Biancheri R.; Zara F.; Minetti C.; Raimondi A.; Simons M.; Walther T.C.; Reinisch K.M.; De Camilli P.;
Nat. Cell Biol. 18:132-138(2016)
Cited for: X-RAY CRYSTALLOGRAPHY (2.9 ANGSTROMS) OF 12-271 IN COMPLEX WITH TTC7B; FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH TTC7B; IDENTIFICATION IN THE PI4K COMPLEX; CHARACTERIZATION OF VARIANTS HLD5 PRO-53 AND ARG-57;
Novel FAM126A mutations in hypomyelination and congenital cataract disease.
Traverso M.; Assereto S.; Gazzerro E.; Savasta S.; Abdalla E.M.; Rossi A.; Baldassari S.; Fruscione F.; Ruffinazzi G.; Fassad M.R.; El Beheiry A.; Minetti C.; Zara F.; Biancheri R.;
Biochem. Biophys. Res. Commun. 439:369-372(2013)
Cited for: VARIANT HLD5 ARG-57;
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