Variant position: 961 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2377 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 ALYFIALMTFGNYVLFNLLV AILVEGFQAEEISKREDASGQ
Rat ALYFIALMTFGNYVLFNLLV AILVEGFQAE-----------
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 – 2377 Voltage-dependent T-type calcium channel subunit alpha-1G
940 – 964 Helical; Name=S6 of repeat II
729 – 967 II
955 – 967
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Chemin J.; Siquier-Pernet K.; Nicouleau M.; Barcia G.; Ahmad A.; Medina-Cano D.; Hanein S.; Altin N.; Hubert L.; Bole-Feysot C.; Fourage C.; Nitschke P.; Thevenon J.; Rio M.; Blanc P.; Vidal C.; Bahi-Buisson N.; Desguerre I.; Munnich A.; Lyonnet S.; Boddaert N.; Fassi E.; Shinawi M.; Zimmerman H.; Amiel J.; Faivre L.; Colleaux L.; Lory P.; Cantagrel V.;
Cited for: INVOLVEMENT IN SCA42ND; FUNCTION; VARIANTS SCA42ND THR-961 AND VAL-1531; CHARACTERIZATION OF VARIANTS SCA42ND THR-961 AND VAL-1531;
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