Variant position: 65 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1518 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 RTRLSTASEETVQNRVSLEK VLGITAQNSSGLTCDPGTGHV
Mouse RTRLAAAPEDTVQNRVTLEK VLGITAQNSSGLTCDPGTGHV
Pig RTRLTAAPEDAVQNRVSLEK VLGITAQNSSGLTCDPGTGHV
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
2 – 1518 WD repeat-containing protein 62
46 – 46 Phosphothreonine
49 – 49 Phosphoserine
50 – 50 Phosphothreonine
52 – 52 Phosphoserine
WDR62 is associated with the spindle pole and is mutated in human microcephaly.
Nicholas A.K.; Khurshid M.; Desir J.; Carvalho O.P.; Cox J.J.; Thornton G.; Kausar R.; Ansar M.; Ahmad W.; Verloes A.; Passemard S.; Misson J.P.; Lindsay S.; Gergely F.; Dobyns W.B.; Roberts E.; Abramowicz M.; Woods C.G.;
Nat. Genet. 42:1010-1014(2010)
Cited for: TISSUE SPECIFICITY; SUBCELLULAR LOCATION; VARIANTS MCPH2 MET-65; HIS-438 AND ASN-511; VARIANT MCPH2 THR-1078 (ISOFORM 4); CHARACTERIZATION OF VARIANT MCPH2 HIS-438;
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
Yu T.W.; Mochida G.H.; Tischfield D.J.; Sgaier S.K.; Flores-Sarnat L.; Sergi C.M.; Topcu M.; McDonald M.T.; Barry B.J.; Felie J.M.; Sunu C.; Dobyns W.B.; Folkerth R.D.; Barkovich A.J.; Walsh C.A.;
Nat. Genet. 42:1015-1020(2010)
Cited for: FUNCTION; SUBCELLULAR LOCATION; VARIANT MCPH2 MET-65;
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.