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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q969F8: Variant p.Leu364His

KiSS-1 receptor
Gene: KISS1R
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Variant information Variant position: help 364 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Leucine (L) to Histidine (H) at position 364 (L364H, p.Leu364His). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and hydrophobic (L) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 364 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 398 The length of the canonical sequence.
Location on the sequence: help RPRRPRRPGPSDPAAPHAEL L RLGSHPAPARAQKPGSSGLA 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         RPRRPRRPGPSDPAAPHAELLRLGSHPAPARAQKPGSSGLA

Mouse                         RQRRPHTSAHSDRAATHTVPHSRAAHPVRIRSPEPGNP--V

Rat                           RQRRPHASAHSDRAAPHSVPHSRAAHPVRVRTPEPGNP--V

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 398 KiSS-1 receptor
Topological domain 329 – 398 Cytoplasmic



Literature citations
Metastasis suppressor gene KiSS-1 encodes peptide ligand of a G-protein-coupled receptor.
Ohtaki T.; Shintani Y.; Honda S.; Matsumoto H.; Hori A.; Kanehashi K.; Terao Y.; Kumano S.; Takatsu Y.; Masuda Y.; Ishibashi Y.; Watanabe T.; Asada M.; Yamada T.; Suenaga M.; Kitada C.; Usuki S.; Kurokawa T.; Onda H.; Nishimura O.; Fujino M.;
Nature 411:613-617(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT HIS-364; TISSUE SPECIFICITY; FMRFamide-related neuropeptides are agonists of the orphan G-protein-coupled receptor GPR54.
Clements M.K.; McDonald T.P.; Wang R.; Xie G.; O'Dowd B.F.; George S.R.; Austin C.P.; Liu Q.;
Biochem. Biophys. Res. Commun. 284:1189-1193(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT HIS-364; TISSUE SPECIFICITY; The metastasis suppressor gene KiSS-1 encodes kisspeptins, the natural ligands of the orphan G protein-coupled receptor GPR54.
Kotani M.; Detheux M.; Vandenbogaerde A.; Communi D.; Vanderwinden J.-M.; Le Poul E.; Brezillon S.; Tyldesley R.; Suarez-Huerta N.; Vandeput F.; Blanpain C.; Schiffmann S.N.; Vassart G.; Parmentier M.;
J. Biol. Chem. 276:34631-34636(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT HIS-364; POSSIBLE FUNCTION; TISSUE SPECIFICITY; The GPR54 gene as a regulator of puberty.
Seminara S.B.; Messager S.; Chatzidaki E.E.; Thresher R.R.; Acierno J.S. Jr.; Shagoury J.K.; Bo-Abbas Y.; Kuohung W.; Schwinof K.M.; Hendrick A.G.; Zahn D.; Dixon J.; Kaiser U.B.; Slaugenhaupt S.A.; Gusella J.F.; O'Rahilly S.; Carlton M.B.L.; Crowley W.F. Jr.; Aparicio S.A.J.R.; Colledge W.H.;
N. Engl. J. Med. 349:1614-1627(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT HH8 SER-148; VARIANT HIS-364; Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT HIS-364; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT HIS-364; Two novel missense mutations in G protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.
Semple R.K.; Achermann J.C.; Ellery J.; Farooqi I.S.; Karet F.E.; Stanhope R.G.; O'rahilly S.; Aparicio S.A.;
J. Clin. Endocrinol. Metab. 90:1849-1855(2005)
Cited for: VARIANTS HH8 ARG-223 AND LEU-297; VARIANT HIS-364; CHARACTERIZATION OF VARIANTS HH8 ARG-223 AND LEU-297;
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.