Sequence information
Variant position: 856 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1941 The length of the canonical sequence.
Location on the sequence:
GAERGKLDQLFEYRPVSQGL
P PPCPSQLLSPFSSVVPFPPY
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 GAERGKLDQLFEYRPVSQGLP PPCPSQLLSPFSSVVPFPPY
Mouse VSKKGKLDPLFEYRPVSQGLP PPSPAQLLSPFSSVVPFPPY
Rat VVKKGKLDPLFEYRPVSQGLP PPSPAQLLSPFSSVVPFPTY
Zebrafish IMHPQGLPFLFKYDPICEGLP PPNPWQLLSPIVSPLPFPEY
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 – 1941
WD repeat-containing protein 81
Alternative sequence
1 – 1227
Missing. In isoform 6.
Alternative sequence
1 – 1203
Missing. In isoform 5.
Alternative sequence
1 – 1051
Missing. In isoform 2 and isoform 3.
Literature citations
Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.
Gulsuner S.; Tekinay A.B.; Doerschner K.; Boyaci H.; Bilguvar K.; Unal H.; Ors A.; Onat O.E.; Atalar E.; Basak A.N.; Topaloglu H.; Kansu T.; Tan M.; Tan U.; Gunel M.; Ozcelik T.;
Genome Res. 21:1995-2003(2011)
Cited for: VARIANT CAMRQ2 LEU-856; TISSUE SPECIFICITY;
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.