UniProtKB/Swiss-Prot P28335: Variant p.Ser23Cys

5-hydroxytryptamine receptor 2C
Gene: HTR2C
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Variant information Variant position:

23 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Serine (S) to Cysteine (C) at position 23 (S23C, p.Ser23Cys). 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:

Change from small size and polar (S) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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:

Links to websites of interest for the variant.

Variant rs6318 [ dbSNP | Ensembl ]

Sequence information Variant position:

23 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

458 The length of the canonical sequence.
Location on the sequence:

NLRNAVHSFLVHLIGLLVWQ S DISVSPVAAIVTDIFNTSDG 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                         NLRNAVHSFLVHLIGLLVWQSDISVSPVAAIVTDIFNTSDG

                              NLRKAVHSFLVHLIGLLVWQCDISVSPVAALVTDIFNTSDG

Chimpanzee                    NLRNAVHSFLVHLIGLLVWQCDISVSPVAAIVTDIFNTSDG

Mouse                         NLGTAVRSLLVHLIGLLVWQFDISISPVAAIVTDTFNSSDG

Rat                           NLGNAVRSLLMHLIGLLVWQFDISISPVAAIVTDTFNSSDG

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
Signal peptide	1 – 32
Glycosylation	39 – 39	N-linked (GlcNAc...) asparagine

Literature citations
Cloning of the human serotonin 5-HT2 and 5-HT1C receptor subtypes.
Saltzman A.G.; Morse B.; Whitman M.M.; Ivanshchenko Y.; Jaye M.; Felder S.;
Biochem. Biophys. Res. Commun. 181:1469-1478(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT CYS-23; Genomic organisation and functional expression of the gene encoding the human serotonin 5-HT2C receptor.
Stam N.J.; Vanderheyden P.; Van Alebeek C.; Klomp J.; De Boer T.; Van Delft A.M.L.; Olijve W.;
Eur. J. Pharmacol. 269:339-348(1994)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; FUNCTION; SUBCELLULAR LOCATION; VARIANT CYS-23; The human serotonin 5-HT2C receptor: complete cDNA, genomic structure, and alternatively spliced variant.
Xie E.; Zhao L.; Levine A.J.; Shenk T.; Chang L.-S.;
Genomics 35:551-561(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; VARIANT CYS-23; Identification and characterization of RNA editing events within the 5-HT2C receptor.
Niswender C.M.; Sanders-Bush E.; Emeson R.B.;
Ann. N. Y. Acad. Sci. 861:38-48(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); RNA EDITING OF POSITIONS 156; 158 AND 160; VARIANT CYS-23; cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org).
Puhl H.L. III; Ikeda S.R.; Aronstam R.S.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT CYS-23; Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANT CYS-23; 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] (ISOFORM 1); VARIANT CYS-23; The N-terminal region of the human 5-HT(2)C receptor has as a cleavable signal peptide.
Jahnsen J.A.; Uhlen S.;
Eur. J. Pharmacol. 684:44-50(2012)
Cited for: SIGNAL SEQUENCE CLEAVAGE SITE; VARIANT CYS-23; Identification, expression, and pharmacology of a Cys23-Ser23 substitution in the human 5-HT2c receptor gene (HTR2C).
Lappalainen J.; Zhang L.; Dean M.; Oz M.; Ozaki N.; Yu D.; Virkkunen M.; Weight F.; Linnoila M.; Goldman D.;
Genomics 27:274-279(1995)
Cited for: VARIANT CYS-23; Association analysis between a Cys23Ser substitution polymorphism of the human 5-HT2c receptor gene and neuronal hyperexcitability.
Samochowiec J.; Smolka M.; Winterer G.; Rommelspacher H.; Schmidt L.G.; Sander T.;
Am. J. Med. Genet. 88:126-130(1999)
Cited for: VARIANT CYS-23; Unified approach to the analysis of genetic variation in serotonergic pathways.
Marshall S.E.; Bird T.G.; Hart K.; Welsh K.I.;
Am. J. Med. Genet. 88:621-627(1999)
Cited for: VARIANT CYS-23; Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANT CYS-23;

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.