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:
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---YEFQWGPRTNLETSKMKV LKFVAKVHNQDPKDWPAQYCE
Mouse VD---YELQWGPRTNLETSKMKV LKFVAKVHNQDPKDWPTQ
Baker's yeast TDGEVISYRIGRRTQAELGLESL EKLVQEIMGLEKEQ----
Fission yeast NQ---FVYYIGSRAVTEISIEGL KSFVTEFFPDSDID----
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 – 304 Non-structural maintenance of chromosomes element 3 homolog
85 – 285 MAGE
78 – 304 Interaction with NSMCE1
266 – 266 F -> A. Abolishes interaction with EID3.
270 – 270 V -> A. Abolishes interaction with EID3.
260 – 271
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;
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.