Sequence information
Variant position: 99 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 458 The length of the canonical sequence.
Location on the sequence:
RVNDQEGREEFYVHYVGFNR
R LDEWVDKNRLALTKTVKDAV
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 RVNDQEGREEFYVHYVGFNRR LDEWVDKNRLALTKTVKDAV
Mouse RVNDQEGREEFYVHYVGFNRR LDEWVDKNRLALTKTVKDAV
Rat RVNDQEGREEFYVHYVGFNRR LDEWVDKNRLALTKTVKDAV
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
2 – 458
Histone acetyltransferase KAT8
Domain
55 – 110
Tudor-knot
Modified residue
113 – 113
N6-acetyllysine
Literature citations
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
Li L.; Ghorbani M.; Weisz-Hubshman M.; Rousseau J.; Thiffault I.; Schnur R.E.; Breen C.; Oegema R.; Weiss M.M.; Waisfisz Q.; Welner S.; Kingston H.; Hills J.A.; Boon E.M.; Basel-Salmon L.; Konen O.; Goldberg-Stern H.; Bazak L.; Tzur S.; Jin J.; Bi X.; Bruccoleri M.; McWalter K.; Cho M.T.; Scarano M.; Schaefer G.B.; Brooks S.S.; Hughes S.S.; van Gassen K.L.I.; van Hagen J.M.; Pandita T.K.; Agrawal P.B.; Campeau P.M.; Yang X.J.;
J. Clin. Invest. 130:1431-1445(2020)
Cited for: INVOLVEMENT IN LIGOWS; VARIANTS LIGOWS CYS-90; GLN-98; GLN-99; VAL-165; 175-LYS--LYS-458 DEL; GLU-175; ASN-181 AND CYS-325; CHARACTERIZATION OF VARIANTS LIGOWS CYS-90; GLN-98; GLN-99; VAL-165; 175-LYS--LYS-458 DEL; GLU-175; ASN-181 AND CYS-325; FUNCTION; CATALYTIC ACTIVITY; SUBUNIT; SUBCELLULAR LOCATION;
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.