Variant position: 86 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 428 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 EVTIFDLGGGIRIRGIWKNY YAESYGVIFVVDSSDEERMEE
Mouse QVTIFDLGGGKRIRGIWKNY YAESYGVIFVVDSSDEERMEE
Zebrafish EVTIFDLGGGKRIRGIWKNY YSESYGVVFVVDSSDVQRIQE
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 – 428 ADP-ribosylation factor-like protein 13B
1 – 103 Missing. In isoform 3.
21 – 127 Missing. In isoform 2.
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.
Thomas S.; Cantagrel V.; Mariani L.; Serre V.; Lee J.E.; Elkhartoufi N.; de Lonlay P.; Desguerre I.; Munnich A.; Boddaert N.; Lyonnet S.; Vekemans M.; Lisgo S.N.; Caspary T.; Gleeson J.; Attie-Bitach T.;
Eur. J. Hum. Genet. 23:621-627(2015)
Cited for: INVOLVEMENT IN JBTS8; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; VARIANT JBTS8 CYS-86; CHARACTERIZATION OF VARIANT JBTS8 CYS-86;
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.