Variant position: 1012 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 YGVSPHRGHLGTKNLCVEVA DLVSILVHADTPLPAWHRAQK
Mouse YGVNSHRGHLGTKNLCVEVS DLISILVHAEAQLPPWYRAQK
Rat YGVNSHRGHLGTKNLCVEVS DLISILVHAEAQLPPWYRAQK
Drosophila ----------------MDIK PSVIQRVPMEQQP--------
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.
Hairless is a histone H3K9 demethylase.
Liu L.; Kim H.; Casta A.; Kobayashi Y.; Shapiro L.S.; Christiano A.M.;
FASEB J. 28:1534-1542(2014)
Cited for: FUNCTION; CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANT ALUNC ASN-1012; MUTAGENESIS OF VAL-1056;
A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia.
Klein I.; Bergman R.; Indelman M.; Sprecher E.;
J. Invest. Dermatol. 119:920-922(2002)
Cited for: VARIANT ALUNC ASN-1012;
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.