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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P28223: Variant p.Thr25Asn

5-hydroxytryptamine receptor 2A
Gene: HTR2A
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Variant information Variant position: help 25 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 Threonine (T) to Asparagine (N) at position 25 (T25N, p.Thr25Asn). 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 Similar physico-chemical property. Both residues are medium size and polar. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 25 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 471 The length of the canonical sequence.
Location on the sequence: help CEENTSLSSTTNSLMQLNDD T RLYSNDFNSGEANTSDAFNW 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                         CEENTSLSSTTNSL--------------------------------MQLNDDTRLYSND--------FNSG-----------------EANTSD------------------------AFNW

                              FEDNAPLSPTTSSL---------------------------

Rhesus macaque                CEENTSLSSTTNSL---------------------------

Mouse                         CEDNISLSSIPNSL---------------------------

Rat                           CEDNISLSSIPNSL---------------------------

Pig                           CEENTSLSSPTNSF---------------------------

Bovine                        CEENTSLSSTTNSL---------------------------

Drosophila                    FNDALDYIYIANSMNDRAFLIAEPHPEQPNVDGQDQDDAEL

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 – 471 5-hydroxytryptamine receptor 2A
Topological domain 1 – 75 Extracellular
Glycosylation 8 – 8 N-linked (GlcNAc...) asparagine
Glycosylation 38 – 38 N-linked (GlcNAc...) asparagine
Glycosylation 44 – 44 N-linked (GlcNAc...) asparagine
Alternative sequence 1 – 138 MDILCEENTSLSSTTNSLMQLNDDTRLYSNDFNSGEANTSDAFNWTVDSENRTNLSCEGCLSPSCLSLLHLQEKNWSALLTAVVIILTIAGNILVIMAVSLEKKLQNATNYFLMSLAIADMLLGFLVMPVSMLTILYG -> MQFLKSAKQKPNYYHIMLVEDQEEGTLHQFNYCERCSESQNNKCISCVDPEDKW. In isoform 2.



Literature citations
Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: identification of two naturally occurring receptor variants and association analysis in schizophrenia.
Erdmann J.; Shimron-Abarbanell D.; Rietschel M.; Albus M.; Maier W.; Koerner J.; Bondy B.; Chen K.; Shih J.C.; Knapp M.; Propping P.; Noethen M.M.;
Hum. Genet. 97:614-619(1996)
Cited for: VARIANTS ASN-25 AND TYR-452; 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: VARIANTS ASN-25 AND TYR-452;
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.