Sequence information
Variant position: 264 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 304 The length of the canonical sequence.
Location on the sequence:
VDYEFQWGPRTNLETSKMKV
L KFVAKVHNQDPKDWPAQYCE
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 VD---YEFQWGPRTNLETSKMKVL KFVAKVHNQDPKDWPAQYCE
Mouse VD---YELQWGPRTNLETSKMKVL KFVAKVHNQDPKDWPTQ
Baker's yeast TDGEVISYRIGRRTQAELGLESLE KLVQEIMGLEKEQ----
Fission yeast NQ---FVYYIGSRAVTEISIEGLK SFVTEFFPDSDID----
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 – 304
Non-structural maintenance of chromosomes element 3 homolog
Domain
85 – 285
MAGE
Region
78 – 304
Interaction with NSMCE1
Mutagenesis
266 – 266
F -> A. Abolishes interaction with EID3.
Mutagenesis
270 – 270
V -> A. Abolishes interaction with EID3.
Helix
260 – 271
Literature citations
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.
van der Crabben S.N.; Hennus M.P.; McGregor G.A.; Ritter D.I.; Nagamani S.C.; Wells O.S.; Harakalova M.; Chinn I.K.; Alt A.; Vondrova L.; Hochstenbach R.; van Montfrans J.M.; Terheggen-Lagro S.W.; van Lieshout S.; van Roosmalen M.J.; Renkens I.; Duran K.; Nijman I.J.; Kloosterman W.P.; Hennekam E.; Orange J.S.; van Hasselt P.M.; Wheeler D.A.; Palecek J.J.; Lehmann A.R.; Oliver A.W.; Pearl L.H.; Plon S.E.; Murray J.M.; van Haaften G.;
J. Clin. Invest. 126:2881-2892(2016)
Cited for: VARIANTS LICS LEU-209 AND PHE-264; CHARACTERIZATION OF VARIANTS LICS LEU-209 AND PHE-264; INVOLVEMENT IN LICS; FUNCTION; SUBUNIT; INTERACTION WITH NSMCE1 AND NSMCE4;
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.