Variant position: 749 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2161 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 CIYFIILFICGNYILLNVFL AIAVDNLADAESLNTAQKEEA
Mouse CIYFIILFICGNYILLNVFL AIAVDNLADAESLNTAQKEEA
Rat CIYFIILFICGNYILLKLFL AIAVDNLADAESLNTAQKEEA
Chicken CIYFIILFICGNYILLNVFL AIAVDNLADAESLNTAQKEEA
Drosophila CIYFIILFICGNYILLNVFL AIAVDNLADADSLSEVEKEEE
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 – 2161 Voltage-dependent L-type calcium channel subunit alpha-1D
728 – 752 Helical; Name=S6 of repeat II
509 – 755 II
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
O'Roak B.J.; Vives L.; Girirajan S.; Karakoc E.; Krumm N.; Coe B.P.; Levy R.; Ko A.; Lee C.; Smith J.D.; Turner E.H.; Stanaway I.B.; Vernot B.; Malig M.; Baker C.; Reilly B.; Akey J.M.; Borenstein E.; Rieder M.J.; Nickerson D.A.; Bernier R.; Shendure J.; Eichler E.E.;
Cited for: VARIANT GLY-749;
CACNA1D de novo mutations in autism spectrum disorders activate Cav1.3 L-type calcium channels.
Pinggera A.; Lieb A.; Benedetti B.; Lampert M.; Monteleone S.; Liedl K.R.; Tuluc P.; Striessnig J.;
Biol. Psychiatry 77:816-822(2015)
Cited for: INVOLVEMENT IN AUTISM SPECTRUM DISORSERS; FUNCTION; CHARACTERIZATION OF VARIANTS ARG-407 AND GLY-749;
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