Variant position: 512 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 644 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 LLCQGLVVDVPALLQH-----DQLI REMRKGSIFKGFQEPDIHFLP
Chimpanzee LLCQGLVVDVPALLQH-----DQLI REMRKGSIFKGFQEPD
Mouse FLKQKPEVDVLALLQH-----DQLT REMKKGSIFRGFEEAE
Rat FLKQDPEVDVLALLQH-----DQLT REMKKGSIFKGFEEAE
Drosophila WI-QNTKFPLPSHLPHGYMHTDQLT SVLADGAAFRGFMEAN
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 – 641 Phosphatidylinositol polyphosphate 5-phosphatase type IV
509 – 515
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Bielas S.L.; Silhavy J.L.; Brancati F.; Kisseleva M.V.; Al-Gazali L.; Sztriha L.; Bayoumi R.A.; Zaki M.S.; Abdel-Aleem A.; Rosti R.O.; Kayserili H.; Swistun D.; Scott L.C.; Bertini E.; Boltshauser E.; Fazzi E.; Travaglini L.; Field S.J.; Gayral S.; Jacoby M.; Schurmans S.; Dallapiccola B.; Majerus P.W.; Valente E.M.; Gleeson J.G.;
Nat. Genet. 41:1032-1036(2009)
Cited for: SUBCELLULAR LOCATION; VARIANTS JBTS1 CYS-378; GLN-435; TRP-512; TRP-515; HIS-563 AND GLU-580; CHARACTERIZATION OF VARIANTS JBTS1 CYS-378; GLN-435; TRP-512; TRP-515; HIS-563 AND GLU-580; CATALYTIC ACTIVITY;
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.