Variant position: 1181 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1738 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 ENKGTALLTVDQRRWEDLKS RLKIAQPLHLPPRPDNDGFRA
Mouse ENKGTALLTVDQRRWEDLKS RLKIAQPLHLPPRPDNDGFRA
Rat ENKGTALLTVDQRRWEDLKS RLKIAQPLHLPPRPDNDGFRA
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 – 1738 Sodium leak channel non-selective protein
1157 – 1209 Cytoplasmic
219 – 1738 Missing. In isoform 3.
669 – 1738 Missing. In isoform 2.
A gain-of-function mutation in NALCN in a child with intellectual disability, ataxia, and arthrogryposis.
Aoyagi K.; Rossignol E.; Hamdan F.F.; Mulcahy B.; Xie L.; Nagamatsu S.; Rouleau G.A.; Zhen M.; Michaud J.L.;
Hum. Mutat. 36:753-757(2015)
Cited for: VARIANT GLN-1181;
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.
Fukai R.; Saitsu H.; Okamoto N.; Sakai Y.; Fattal-Valevski A.; Masaaki S.; Kitai Y.; Torio M.; Kojima-Ishii K.; Ihara K.; Chernuha V.; Nakashima M.; Miyatake S.; Tanaka F.; Miyake N.; Matsumoto N.;
J. Hum. Genet. 61:451-455(2016)
Cited for: VARIANTS VAL-312; PHE-1020 AND GLN-1181;
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