Variant position: 424 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 LNCHLSDTAIGMMTRIAVLK WLYHLYIKTPRKMFRHTDSLF
Mouse LNCHLSDTTIGMMTRIAVLK WLYHLYIKTPRKMFRHTDSLF
Rat LNCHLSDTTIGMMTRIAVLK WLYHLYIKTPRKMFRHTDSLF
Bovine LNCHLSDTAIGMMTRIAVLK WLYHLYIKTPRKMSRHTDSLF
Chicken LDCHLHDTSIGMMTRIAVLK WLYHLYIKTPRKMFRHTDSLF
Xenopus laevis LDRHLHESTTGMMTRICVLK WLYHLYIKTPRKMFRHTDSLF
Zebrafish LDRHLHDSSTGMMTRIAVLK WLYHLYIKTPRKMFKHTDSLF
Baker's yeast LTLQFFDSRID--AKIACLD WLILIYHKAPNQILKHNDSMF
Fission yeast LQKLLSNDNEE--TRLCALE WVLLLQRRTGGKLINMHDPIF
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
1 – 568 Missing. In isoform 2.
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;
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.