Variant position: 280 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 627 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 LTVLVFYLPSECGEKITLCI SVLLSLTVFLLLITEIIPS-TS
Chimpanzee LTVLVFYLPSECGEKITLCI SVLLSLTVFLLLITEIIPS-T
Mouse LTVLVFYLPSECGEKVTLCI SVLLSLTVFLLLITEIIPS-T
Rat LTVLVFYLPSECGEKVTLCI SVLLSLTVFLLLITEIIPSPT
Chicken LTVLVFYLPSECGEKITLCI SVLLSLTVFLLLITEIIPS-T
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
29 – 627 Neuronal acetylcholine receptor subunit alpha-4
275 – 293 Helical
271 – 271 S-palmitoyl cysteine
274 – 292
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha-4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.
Steinlein O.K.; Mulley J.C.; Propping P.; Wallace R.H.; Phillips H.A.; Sutherland G.R.; Scheffer I.E.; Berkovic S.F.;
Nat. Genet. 11:201-203(1995)
Cited for: VARIANT ENFL1 PHE-280;
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