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:
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 PEPPVTQRGCCSSYPPTKGG GLGPCGKCQEGLEGGASGASE
Mouse PGPPTPPGGCCSSHLPAREG DLGPCRKCQDSPEGGSSGPGE
Rat PGPPTPPGGCCSSHLPAREG DPGPCRKCQDSPEGSSSGPGE
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
1 – 1189 Lysine-specific demethylase hairless
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.;
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.;
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;
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.