Variant position: 179 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 419 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 ELLQAFFLVADDIMDSSLTR RGQICWYQKPGVGLDAINDAN
Mouse ELLQAFFLVSDDIMDSSLTR RGQICWYQKPGIGLDAINDAL
Rat ELLQAFFLVLDDIMDSSYTR RGQICWYQKPGIGLDAINDAL
Bovine ELLQAFFLVSDDIMDSSLTR RGQTCWYQKPGIGLDAINDAF
Chicken ELFQAFFLVADDIMDQSLTR RGQLCWYKKEGVGLDAINDSF
Baker's yeast ELLQAYFLVADDMMDKSITR RGQPCWYKVPEVGEIAINDAF
Fission yeast ELLQSFFLIADDIMDASKTR RGQPCWYLMPGVGNIAINDAF
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 – 419 Farnesyl pyrophosphate synthase
169 – 169 Magnesium 1
169 – 169 Magnesium 2
173 – 173 Magnesium 1
173 – 173 Magnesium 2
162 – 162 Isopentenyl diphosphate
178 – 178 Dimethylallyl diphosphate
179 – 179 Isopentenyl diphosphate
164 – 164 Important for determining product chain length
165 – 165 Important for determining product chain length
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 POROK9; VARIANT POROK9 GLN-179;
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.