Variant position: 69 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 818 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 SFR-DSKSLTIQKDLVAAFDN GDQKVFFDLWEEHISSSIRDG
Mouse PLKKDSKSLVIQRDLVAAFDS GDQKAFFDLWEGHIPSSVRD
Rat SLKKDSNSLMIQKDLVAAFDS GDQKLFFDLWEGHIPSSIRD
Bovine SLR-DPKSLKFQRDLLAAFDS GDQKVFFRLWEEHIPRPIRD
Xenopus laevis SLR-ESKTLLIQKDLITAFED GDIKEFFALWQEHIPVETQN
Xenopus tropicalis ALR-ESKTLLIQKDLITAFED GDIKEFFALWQEHIPVETQN
Zebrafish SRR-DSKIISIYEDFLSSFND GDYKVFSELWAKNIPPEIRD
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 – 818 LisH domain-containing protein ARMC9
Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome in humans and ciliopathy phenotypes in zebrafish.
Van De Weghe J.C.; Rusterholz T.D.S.; Latour B.; Grout M.E.; Aldinger K.A.; Shaheen R.; Dempsey J.C.; Maddirevula S.; Cheng Y.H.; Phelps I.G.; Gesemann M.; Goel H.; Birk O.S.; Alanzi T.; Rawashdeh R.; Khan A.O.; Bamshad M.J.; Nickerson D.A.; Neuhauss S.C.F.; Dobyns W.B.; Alkuraya F.S.; Roepman R.; Bachmann-Gagescu R.; Doherty D.;
Am. J. Hum. Genet. 101:23-36(2017)
Cited for: SUBCELLULAR LOCATION; INDUCTION; INVOLVEMENT IN JBTS30; VARIANTS JBTS30 ARG-69; ARG-87 DEL; CYS-343; CYS-446; ARG-492 AND LEU-520;
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.