Variant position: 305 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 748 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 HTQDTLV-AQNSSIMPEPEHV IVACCNQFFVLDVVINFR-RLS
Mouse HTQDTLV-AQKSSIMPEPEHV IVACCNQFFVLDVVINFR-R
Rat HTQDTLV-AQKSSIMPEPEHV IVACCNQFFVLDVVINFR-R
Pig HTQDTLV-AQKSSVMPEPEHV IVACCNQFFVLDVVINFR-R
Chicken HTKDTLV-AQKSCVMPEPEHI IVACNNQLFVLDVGINFR-R
Zebrafish TKTDTLV-AQKSTVMPEPEHI IVACKNQFFVLDVMVNFR-R
Caenorhabditis elegans VGEDTQI--RKQKTNDGNEHV LVMCRNQTFLLHSRINGA-L
Drosophila VKQDSQFLPSRERLNDEDRHV VVICRNQMYCVVLQASDRGK
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 – 748 Choline O-acetyltransferase
300 – 308
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.
Ohno K.; Tsujino A.; Brengman J.M.; Harper C.M.; Bajzer Z.; Udd B.; Beyring R.; Robb S.; Kirkham F.J.; Engel A.G.;
Proc. Natl. Acad. Sci. U.S.A. 98:2017-2022(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS M; R AND S); ALTERNATIVE SPLICING; VARIANTS CMS6 PRO-210; ALA-211; THR-305; CYS-420; LYS-441; GLY-482; LEU-498; LEU-506 AND HIS-560; VARIANTS THR-120; GLY-392 AND MET-461;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.