Variant position: 290 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 779 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 LLEHIMIYAKNLVNADRCAL FQVDHKNKELYSDLFDIGEEK
Mouse LLEHIMIYAKNLVNADRCAL FQVDHKNKELYSDLFDIGEEK
Rat LLEHIMIYAKNLVNADRCAL FQVDHKNKELYSDLFDIGEEK
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 – 779 cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A
266 – 412 GAF 2
284 – 293
De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions.
Mencacci N.E.; Kamsteeg E.J.; Nakashima K.; R'Bibo L.; Lynch D.S.; Balint B.; Willemsen M.A.; Adams M.E.; Wiethoff S.; Suzuki K.; Davies C.H.; Ng J.; Meyer E.; Veneziano L.; Giunti P.; Hughes D.; Raymond F.L.; Carecchio M.; Zorzi G.; Nardocci N.; Barzaghi C.; Garavaglia B.; Salpietro V.; Hardy J.; Pittman A.M.; Houlden H.; Kurian M.A.; Kimura H.; Vissers L.E.; Wood N.W.; Bhatia K.P.;
Am. J. Hum. Genet. 98:763-771(2016)
Cited for: TISSUE SPECIFICITY; INVOLVEMENT IN ADSD2; VARIANTS ADSD2 LEU-290 AND LEU-324; CHARACTERIZATION OF VARIANTS ADSD2 LEU-290 AND LEU-324;
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.