Variant position: 161 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 400 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 VYGV---ESDLSEVARRGSGSAC RSLYGGFVEWQMGEQADGKDS
Mouse VYGV---EGDLSEVARRGSGSAC RSLYGGFVEWQMGEQADG
Rat VYGV---EGDLSEVARRGSGSAC RSLYGGFVEWQMGEQADG
Bovine VYGV---DSDLSEVARRGSGSAC RSLYGGFVEWQMGERPDG
Zebrafish LFNV---EGELSGVARQGSGSAC RSLYGGFVQWKLGEQSDG
Slime mold MYGV---DGDISGIARLGSGSAC RSMYGGFVKWEMGTKDDG
Baker's yeast LYQLPQSTSEISRIARKGSGSAC RSLFGGYVAWEMGKAEDG
Fission yeast LYDLPWTPTQLSRIARQGSGSAC RSLFGGYVAWEMGELHSG
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 – 400 Diphosphomevalonate decarboxylase
157 – 163
Genomic variations of the mevalonate pathway in porokeratosis.
Zhang Z.; Li C.; Wu F.; Ma R.; Luan J.; Yang F.; Liu W.; Wang L.; Zhang S.; Liu Y.; Gu J.; Hua W.; Fan M.; Peng H.; Meng X.; Song N.; Bi X.; Gu C.; Zhang Z.; Huang Q.; Chen L.; Xiang L.; Xu J.; Zheng Z.; Jiang Z.;
Cited for: INVOLVEMENT IN POROK7; VARIANTS POROK7 ARG-101; VAL-128; GLN-161; LEU-161; GLN-228; TRP-228; SER-249; SER-292; ILE-371 DEL AND ARG-376;
Human mevalonate diphosphate decarboxylase: characterization, investigation of the mevalonate diphosphate binding site, and crystal structure.
Voynova N.E.; Fu Z.; Battaile K.P.; Herdendorf T.J.; Kim J.J.; Miziorko H.M.;
Arch. Biochem. Biophys. 480:58-67(2008)
Cited for: X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS); MUTAGENESIS OF ASN-17; CHARACTERIZATION OF VARIANT POROK7 GLN-161;
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.