Variant position: 582 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 782 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 AENIFHSMADILLREEDLKF ASTMVHALNTILLTSTELFQL
Mouse AENIFHSMADILLREEDLKF ASTMVHTLNTILLTSTELFQL
Rat AENIFHSMADILLREEDLKF ASTMVHTLNTILLTSTELFQL
Bovine AESIFHSMADILLREEDLTF ASTMVHTLNTILLTSTELFQL
Chicken TENIFHSMADILLREEDLKF ASTMVHTLNTILLTSSELFQL
Xenopus laevis AENIFHSMADILLREEDLKF ASTMVQNLNSILLTSSELFQL
Zebrafish AENIFHSMADILLKEEDLKF ASTMVQTLNTILLTSAELFQL
Baker's yeast PERVYKVISSILDNYNDTTF VKMMIQILSTNLITSPEMSSL
Fission yeast GERVYTSFAGILETEENLEL ASIMVEVLNNNLFTAPELYDL
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 – 782 Protein VAC14 homolog
560 – 598 HEAT 6
Biallelic mutations of VAC14 in pediatric-onset neurological disease.
Lenk G.M.; Szymanska K.; Debska-Vielhaber G.; Rydzanicz M.; Walczak A.; Bekiesinska-Figatowska M.; Vielhaber S.; Hallmann K.; Stawinski P.; Buehring S.; Hsu D.A.; Kunz W.S.; Meisler M.H.; Ploski R.;
Am. J. Hum. Genet. 99:188-194(2016)
Cited for: INVOLVEMENT IN SNDC; VARIANTS SNDC LEU-424; SER-582 AND LEU-583;
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