Sequence information
Variant position: 65 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 805 The length of the canonical sequence.
Location on the sequence:
VPSNHRNNHIRRHSIASDSG
D TGIGTSCSDSVEDHSTSSGT
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 VPSNHRNNHIRRHSIASDSGD TGIGTSCSDSVEDHSTSSGT
Mouse VPSNHRNNHLRRHSITSDSGD TGIGTSCSDSVEDHSTSSGT
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 – 805
Centrosomal protein of 85 kDa-like
Region
50 – 89
Disordered
Compositional bias
63 – 89
Polar residues
Alternative sequence
1 – 102
Missing. In isoform 3.
Literature citations
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
Tsai M.H.; Muir A.M.; Wang W.J.; Kang Y.N.; Yang K.C.; Chao N.H.; Wu M.F.; Chang Y.C.; Porter B.E.; Jansen L.A.; Sebire G.; Deconinck N.; Fan W.L.; Su S.C.; Chung W.H.; Almanza Fuerte E.P.; Mehaffey M.G.; Ng C.C.; Chan C.K.; Lim K.S.; Leventer R.J.; Lockhart P.J.; Riney K.; Damiano J.A.; Hildebrand M.S.; Mirzaa G.M.; Dobyns W.B.; Berkovic S.F.; Scheffer I.E.; Tsai J.W.; Mefford H.C.;
Neuron 106:237.e1-245.e8(2020)
Cited for: INVOLVEMENT IN LIS10; VARIANTS LIS10 CYS-58; ASN-65; THR-68 AND ARG-69; SUBCELLULAR LOCATION; FUNCTION;
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.