Variant position: 324 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 506 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 AMYYLLRHPEAMAAVRDEID RLLQSTGQKKGSGFPIHLTRE
Mouse AMYYILRHPEAMEALRDEID SFLQSTGQKKGPGISVHFTRE
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 – 506 Cytochrome P450 7B1
Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7-alpha-hydroxylase gene causes severe neonatal liver disease.
Setchell K.D.R.; Schwarz M.; O'Connell N.C.; Lund E.G.; Davis D.L.; Lathe R.; Thompson H.R.; Tyson W.R.; Sokol R.J.; Russell D.W.;
J. Clin. Invest. 102:1690-1703(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; INVOLVEMENT IN CBAS3; VARIANT HIS-324; FUNCTION; CATALYTIC ACTIVITY; PATHWAY; SUBCELLULAR LOCATION;
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Goizet C.; Boukhris A.; Durr A.; Beetz C.; Truchetto J.; Tesson C.; Tsaousidou M.; Forlani S.; Guyant-Marechal L.; Fontaine B.; Guimaraes J.; Isidor B.; Chazouilleres O.; Wendum D.; Grid D.; Chevy F.; Chinnery P.F.; Coutinho P.; Azulay J.P.; Feki I.; Mochel F.; Wolf C.; Mhiri C.; Crosby A.; Brice A.; Stevanin G.;
Cited for: VARIANTS SPG5A ALA-297; CYS-417; HIS-417; ILE-470 AND CYS-486; VARIANTS PRO-19; TYR-106; SER-287 AND HIS-324;
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
Schubert S.F.; Hoffjan S.; Dekomien G.;
Mol. Cell. Probes 30:53-55(2016)
Cited for: VARIANT SPG5A ARG-198; VARIANT HIS-324;
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