UniProtKB/Swiss-Prot O43593: Variant p.Gly337Asp

Lysine-specific demethylase hairless
Gene: HR
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Variant information Variant position:

337 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 Glycine (G) to Aspartate (D) at position 337 (G337D, p.Gly337Asp). 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 glycine (G) to medium size and acidic (D) 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 rs12675375 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1189 The length of the canonical sequence.
Location on the sequence:

PEPPVTQRGCCSSYPPTKGG G LGPCGKCQEGLEGGASGASE 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                         PEPPVTQRGCCSSYPPTKGGGLGPCGKCQEGLEGGASGASE

Mouse                         PGPPTPPGGCCSSHLPAREGDLGPCRKCQDSPEGGSSGPGE

Rat                           PGPPTPPGGCCSSHLPAREGDPGPCRKCQDSPEGSSSGPGE

Drosophila                    -----------------------------------------

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 – 1189	Lysine-specific demethylase hairless

Literature citations
Alopecia universalis associated with a mutation in the human hairless gene.
Ahmad W.; ul Haque M.F.; Brancolini V.; Tsou H.C.; Ul Haque S.; Lam H.; Aita V.M.; Owen J.; Deblaquiere M.; Frank J.; Cserhalmi-Friedman P.B.; Leask A.; McGrath J.A.; Peacocke M.; Ahmad M.; Ott J.; Christiano A.M.;
Science 279:720-724(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ASP-337; VARIANT ALUNC ALA-1022; Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family.
Ahmad W.; Zlotogorski A.; Panteleyev A.A.; Lam H.; Ahmad M.; ul Haque M.F.; Abdallah H.M.; Dragan L.; Christiano A.M.;
Genomics 56:141-148(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); SEQUENCE REVISION TO 572 AND 774; TISSUE SPECIFICITY; VARIANT ASP-337; Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.
Cichon S.; Anker M.; Vogt I.R.; Rohleder H.; Putzstuck M.; Hillmer A.; Farooq S.A.; Al-Dhafri K.S.; Ahmad M.; Haque S.; Rietschel M.; Propping P.; Kruse R.; Noethen M.M.;
Hum. Mol. Genet. 7:1671-1679(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2); VARIANT ASP-337; VARIANT ALUNC ASP-1136; TISSUE SPECIFICITY;

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.