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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P23352: Variant p.Val534Ile

Anosmin-1
Gene: ANOS1
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Variant information Variant position: help 534 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 Valine (V) to Isoleucine (I) at position 534 (V534I, p.Val534Ile). 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 hydrophobic. 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 534 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 680 The length of the canonical sequence.
Location on the sequence: help EAVFFTTPPCSALKGKSHKP V GCLGEAGHVLSKVLAKPENL 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                         EAVFFTTPPCSALKGKSHKPVGCLGEAGHVLSKVLAKPENL

Chicken                       ESIFFVTPSCSAFKEKTHKHINCAAEEVPVLPKVLAKPENL

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 25 – 680 Anosmin-1
Glycosylation 553 – 553 N-linked (GlcNAc...) asparagine



Literature citations
The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules.
Legouis R.; Hardelin J.-P.; Levilliers J.; Claverie J.-M.; Compain S.; Wunderle V.; Millasseau P.; le Paslier D.; Cohen D.; Caterina D.; Bougueleret L.; Delemarre-Van de Waal H.; Lutfalla G.; Weissenbach J.; Petit C.;
Cell 67:423-435(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ILE-534; A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.
Franco B.; Guioli S.; Pragliola A.; Inceri B.; Bardoni B.; Tonlorenzi R.; Carrozo R.; Maestrini E.; Pieretti M.; Taillon-Miller P.; Brown C.J.; Willard H.F.; Lawrence C.; Persico N.G.; Camerino G.; Ballabio A.;
Nature 353:529-536(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ILE-534; 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 ILE-534; 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 ILE-534; Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.
Hardelin J.-P.; Levilliers J.; Blanchard S.; Carel J.-C.; Leutenegger M.; Pinard-Bertelletto J.-P.; Bouloux P.; Petit C.;
Hum. Mol. Genet. 2:373-377(1993)
Cited for: VARIANT HH1 LYS-267; VARIANT ILE-534; Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.
Georgopoulos N.A.; Pralong F.P.; Seidman C.E.; Seidman J.G.; Crowley W.F. Jr.; Vallejo M.;
J. Clin. Endocrinol. Metab. 82:213-217(1997)
Cited for: VARIANT HH1 LEU-517; VARIANTS ILE-534 AND HIS-668; A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome.
Maya-Nunez G.; Zenteno J.C.; Ulloa-Aguirre A.; Kofman-Alfaro S.; Mendez J.P.;
J. Clin. Endocrinol. Metab. 83:1650-1653(1998)
Cited for: VARIANT HH1 LYS-514; VARIANT ILE-534; The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.
Oliveira L.M.B.; Seminara S.B.; Beranova M.; Hayes F.J.; Valkenburgh S.B.; Schipani E.; Costa E.M.F.; Latronico A.C.; Crowley W.F. Jr.; Vallejo M.;
J. Clin. Endocrinol. Metab. 86:1532-1538(2001)
Cited for: VARIANT HH1 ARG-172; VARIANT ILE-534; Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.
Sato N.; Katsumata N.; Kagami M.; Hasegawa T.; Hori N.; Kawakita S.; Minowada S.; Shimotsuka A.; Shishiba Y.; Yokozawa M.; Yasuda T.; Nagasaki K.; Hasegawa D.; Hasegawa Y.; Tachibana K.; Naiki Y.; Horikawa R.; Tanaka T.; Ogata T.;
J. Clin. Endocrinol. Metab. 89:1079-1088(2004)
Cited for: VARIANT HH1 TYR-163; VARIANT ILE-534; Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism.
Versiani B.R.; Trarbach E.; Koenigkam-Santos M.; dos Santos A.C.; Elias L.L.K.; Moreira A.C.; Latronico A.C.; de Castro M.;
Clin. Endocrinol. (Oxf.) 66:173-179(2007)
Cited for: VARIANT HH1 SER-304; VARIANT ILE-534;
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.