Sequence information
Variant position: 331 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 384 The length of the canonical sequence.
Location on the sequence:
YLTAFYVVECIAMSNSMINT
V CFVTVKNNTMKYFKKMMLLH
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 YLTAFYVVECIAMSNSMINTV CFVTVKNNTMKYFKKMMLLH
Mouse YLTAFYVVECIAMSNSMINTI CFVTVKNNTMKYFKKMLRLH
Rat YLTAFYVVECIAMSNSMINTI CFVTVKNNTMKYFKKMLLLH
Bovine YLTAFYVVECIAMSNSMINTV CFVTVKNSTMKYFKKMLLLH
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
Chain
1 – 384
Prokineticin receptor 2
Transmembrane
314 – 334
Helical; Name=7
Literature citations
Submission
Martin A.L.; Kaighin V.A.; Aronstam R.S.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT MET-331;
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
Dode C.; Teixeira L.; Levilliers J.; Fouveaut C.; Bouchard P.; Kottler M.-L.; Lespinasse J.; Lienhardt-Roussie A.; Mathieu M.; Moerman A.; Morgan G.; Murat A.; Toublanc J.-E.; Wolczynski S.; Delpech M.; Petit C.; Young J.; Hardelin J.-P.;
PLoS Genet. 2:1648-1652(2006)
Cited for: VARIANTS HH3 CYS-85; HIS-85; GLN-164; ARG-173; SER-178; ARG-210; CYS-268; SER-290; ILE-323 AND MET-331; VARIANT MET-335;
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
Cole L.W.; Sidis Y.; Zhang C.; Quinton R.; Plummer L.; Pignatelli D.; Hughes V.A.; Dwyer A.A.; Raivio T.; Hayes F.J.; Seminara S.B.; Huot C.; Alos N.; Speiser P.; Takeshita A.; Van Vliet G.; Pearce S.; Crowley W.F. Jr.; Zhou Q.Y.; Pitteloud N.;
J. Clin. Endocrinol. Metab. 93:3551-3559(2008)
Cited for: VARIANTS HH3 CYS-85; HIS-113; MET-115; GLN-164; ARG-173; SER-178; LEU-188; GLN-248; MET-331 AND TRP-357; CHARACTERIZATION OF VARIANTS HH3 CYS-85; HIS-113; MET-115; GLN-164; ARG-173; SER-178; LEU-188; GLN-248; MET-331 AND TRP-357;
PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity.
Monnier C.; Dode C.; Fabre L.; Teixeira L.; Labesse G.; Pin J.P.; Hardelin J.P.; Rondard P.;
Hum. Mol. Genet. 18:75-81(2009)
Cited for: CHARACTERIZATION OF VARIANTS HH3 CYS-85; HIS-85; GLN-164; ARG-173; SER-178; ARG-210; CYS-268; SER-290; ILE-323 AND MET-331; SUBCELLULAR LOCATION;
Disclaimer:
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.