Variant position: 48 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 614 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 NKRGQVVGTRGGFRGCTVWL TGLSGAGKTTISFALEEYLVS
Mouse NKRGQVVGTRGGFRGCTVWL TGLSGAGKTTISFALEEYLVS
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 – 614 Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2
1 – 215 Adenylyl-sulfate kinase
43 – 48
Inactivating PAPSS2 mutations in a patient with premature pubarche.
Noordam C.; Dhir V.; McNelis J.C.; Schlereth F.; Hanley N.A.; Krone N.; Smeitink J.A.; Smeets R.; Sweep F.C.; Claahsen-van der Grinten H.L.; Arlt W.;
N. Engl. J. Med. 360:2310-2318(2009)
Cited for: TISSUE SPECIFICITY; VARIANT BCYM4 ARG-48; CHARACTERIZATION OF VARIANT BCYM4 ARG-48;
PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation - in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations.
Oostdijk W.; Idkowiak J.; Mueller J.W.; House P.J.; Taylor A.E.; O'Reilly M.W.; Hughes B.A.; de Vries M.C.; Kant S.G.; Santen G.W.; Verkerk A.J.; Uitterlinden A.G.; Wit J.M.; Losekoot M.; Arlt W.;
J. Clin. Endocrinol. Metab. 2015:JC20143556-JC20143556(2015)
Cited for: VARIANT BCYM4 ASP-270; CHARACTERIZATION OF VARIANTS BCYM4 ARG-48 AND ASP-270;
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.