Variant position: 34 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 NSPKMRVIRVGTRKSQLARI QTDSVVATLKASYPGLQFEII
Mouse NGSKMRVIRVGTRKSQLARI QTDTVVAMLKALYPGIQFEII
Rat NGSMMRVIRVGTRKSQLARI QTDTVVAMLKTLYPGIQFEII
Bovine DTPKMRVIRVGTRKSQLARI QTDSVVATLKALYPGLQFEII
Slime mold SITKRDKVIIGSRKSQLAML QTEWVRDRIQELNPGIIVEIK
Baker's yeast MGP--ETLHIGGRKSKLAVI QSNHVLKLIEEKYPDYDCKVF
Fission yeast -MPSCTSFPIGTRKSKLAVI QSEIIREELEKHYPHLEFPII
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 – 361 Porphobilinogen deaminase
15 – 15 Phosphoserine
29 – 45
Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.
De Siervi A.; Rossetti M.V.; Parera V.E.; Astrin K.H.; Aizencang G.I.; Glass I.A.; Batlle A.M.C.; Desnick R.J.;
Am. J. Med. Genet. 86:366-375(1999)
Cited for: VARIANTS AIP PRO-34; ARG-111; TRP-173; TRP-201; 329-LEU--GLN-332 DEL AND SER-335;
Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene.
Floderus Y.; Shoolingin-Jordan P.M.; Harper P.;
Clin. Genet. 62:288-297(2002)
Cited for: VARIANTS AIP CYS-26; HIS-26; VAL-86; PRO-92; GLY-99; ARG-111; THR-113; GLN-173; ASN-178; GLN-225; GLY-225; TYR-256; ASP-260 AND PRO-343;
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.