Variant position: 215 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 361 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 RMGWHNRVGQILHPEECMYA VGQGALGVEVRAKDQDILDLV
Mouse RMGWQNRVGQILHPEECMYA VGQGALAVEVRAKDQDILDLV
Rat RMGWQNRVGQILHPEECMYA VGQGALAVEVRAKDQDILDLV
Bovine RMGWQNRVGQILHPEECMYA VGQGALGVEVRAKDQDILDLV
Slime mold RMELTDHISEIIPDSISLYA VGQGSLGIECKDGDDFIQSIL
Baker's yeast RMGLENRITQRFHSDTMYHA VGQGALGIEIRKGDTKMMKIL
Fission yeast RLGLKDRIAQMLTAPFVYYA VGQGALAVEVRADDKEMIEML
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.
Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W.
Tjensvoll K.; Bruland O.; Floderus Y.; Skadberg O.; Sandberg S.; Apold J.;
Dis. Markers 19:41-46(2003)
Cited for: VARIANTS AIP GLU-215 AND PRO-238;
Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.
Bustad H.J.; Vorland M.; Ronneseth E.; Sandberg S.; Martinez A.; Toska K.;
Biosci. Rep. 33:0-0(2013)
Cited for: BIOPHYSICOCHEMICAL PROPERTIES; VARIANT ASN-132; CHARACTERIZATION OF VARIANTS AIP TRP-116; TRP-167; TRP-173 AND GLU-215; CHARACTERIZATION OF VARIANT ASN-132;
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.