Variant position: 279 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 529 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 FVIRRLPLFYTINLIIPCLL ISCLTVLVFYLPSDCGEKITL
Chimpanzee FIIRRLPLFYTINLIIPCLL ISCLTVLVFYLPSNCGEKITL
Mouse FVIRRLPLFYTINLIIPCLL ISCLTVLVFYLPSECGEKITL
Rat FVIRRLPLFYTINLIIPCLL ISCLTVLVFYLPSECGEKITL
Chicken FVIRRLPLFYTINLIIPCLL ISCLTVLVFYLPSDCGEKITL
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
27 – 529 Neuronal acetylcholine receptor subunit alpha-2
265 – 289 Helical
Increased sensitivity of the neuronal nicotinic receptor alpha2 subunit causes familial epilepsy with nocturnal wandering and ictal fear.
Aridon P.; Marini C.; Di Resta C.; Brilli E.; De Fusco M.; Politi F.; Parrini E.; Manfredi I.; Pisano T.; Pruna D.; Curia G.; Cianchetti C.; Pasqualetti M.; Becchetti A.; Guerrini R.; Casari G.;
Am. J. Hum. Genet. 79:342-350(2006)
Cited for: VARIANT ENFL4 ASN-279; CHARACTERIZATION OF VARIANT ENFL4 ASN-279;
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