Variant position: 1089 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1795 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 CMDFCAHAHKDQHNLYNGCT VVCTLTKEDNRCVGKIPEDEQ
Mouse CMDFCAHAHKDQHNLYNGCT VVCTLTKEDNRCVGQIPEDEQ
Xenopus tropicalis CMDFCAHAHKDQHNLYNGCT VVCTLTKEDNRMIGRVAEDEQ
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.
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
Beck D.B.; Petracovici A.; He C.; Moore H.W.; Louie R.J.; Ansar M.; Douzgou S.; Sithambaram S.; Cottrell T.; Santos-Cortez R.L.P.; Prijoles E.J.; Bend R.; Keren B.; Mignot C.; Nougues M.C.; Ounap K.; Reimand T.; Pajusalu S.; Zahid M.; Saqib M.A.N.; Buratti J.; Seaby E.G.; McWalter K.; Telegrafi A.; Baldridge D.; Shinawi M.; Leal S.M.; Schaefer G.B.; Stevenson R.E.; Banka S.; Bonasio R.; Fahrner J.A.;
Am. J. Hum. Genet. 106:234-245(2020)
Cited for: INVOLVEMENT IN BEFAHRS; VARIANTS BEFAHRS CYS-752; MET-851; LEU-908; CYS-1072; THR-1076; MET-1089; LEU-1677 AND 1695-GLN--ILE-1795 DEL; CHARACTERIZATION OF VARIANTS BEFAHRS CYS-752; LEU-908; CYS-1072; THR-1076 AND MET-1089; FUNCTION; CATALYTIC ACTIVITY; MUTAGENESIS OF 1077-HIS--ASP-1079;
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.