Variant position: 149 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 182 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 DLLTAAPASEIAEGLN--LHTI RDRVWQIQSCSALTGEGVQDG
Mouse DLLTAAPASEIAEGLN--LHTI RDRVWQIQSCSALTGEGVQ
Rat DLLTAAPAAEIAEGLN--LHTI RDRVWQIQSCSALTGEGVQ
Pig DLLTAAPASEIAEGLN--LHTI RDRVWQIQSCSALTGEGVQ
Bovine DLLTAAPASEIAEGLN--LHTI RDRFWQIQSCSALTGEGVQ
Xenopus laevis DLLTAAPASEIAEGLN--LHTI RDRVWQIQSCSALTGQGVQ
Zebrafish DLLTAAPASEIAEGLN--LHTI RDRVWQIQSCSALTGEGVQ
Caenorhabditis elegans DLVTAASSEEITRKLN--LDLL RDRTWHIQACSALKNEGIN
Baker's yeast DRQDRMEVQDIKEVFNKIAEHI SARDSRVLPISALTGEGVK
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
2 – 182 ADP-ribosylation factor-like protein 3
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
Alkanderi S.; Molinari E.; Shaheen R.; Elmaghloob Y.; Stephen L.A.; Sammut V.; Ramsbottom S.A.; Srivastava S.; Cairns G.; Edwards N.; Rice S.J.; Ewida N.; Alhashem A.; White K.; Miles C.G.; Steel D.H.; Alkuraya F.S.; Ismail S.; Sayer J.A.;
Am. J. Hum. Genet. 103:612-620(2018)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INVOLVEMENT IN JBTS35; VARIANTS JBTS35 CYS-149 AND HIS-149; CHARACTERIZATION OF VARIANT JBTS35 HIS-149;
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.