Variant position: 361 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 580 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 SAAVMSSADSSILSASSMFA RNIYQLSFRQNASDKEIVWVM
Mouse SAAVMSSADSSILSASSMFA RNIYQLSFRQNASDKEIVWVM
Rat SAAVMSSADSSILSASSMFA RNIYQLSFRQNASDKEIVWVM
Caenorhabditis elegans SAAVMSSADSSVLSAASMFA HNIWKLTIRPHASEKEVIIVM
Drosophila SAAVMSSADSSVLSAASMFA RNVYKLIFRQKASEMEIIWVM
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 – 580 High affinity choline transporter 1
339 – 376 Cytoplasmic
Impaired presynaptic high-affinity choline transporter causes a congenital myasthenic syndrome with episodic apnea.
Bauche S.; O'Regan S.; Azuma Y.; Laffargue F.; McMacken G.; Sternberg D.; Brochier G.; Buon C.; Bouzidi N.; Topf A.; Lacene E.; Remerand G.; Beaufrere A.M.; Pebrel-Richard C.; Thevenon J.; El Chehadeh-Djebbar S.; Faivre L.; Duffourd Y.; Ricci F.; Mongini T.; Fiorillo C.; Astrea G.; Burloiu C.M.; Butoianu N.; Sandu C.; Servais L.; Bonne G.; Nelson I.; Desguerre I.; Nougues M.C.; Boeuf B.; Romero N.; Laporte J.; Boland A.; Lechner D.; Deleuze J.F.; Fontaine B.; Strochlic L.; Lochmuller H.; Eymard B.; Mayer M.; Nicole S.;
Am. J. Hum. Genet. 99:753-761(2016)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INVOLVEMENT IN CMS20; VARIANTS CMS20 GLY-48; GLU-65; SER-105; HIS-111; CYS-175; THR-291; LEU-344; GLN-361; VAL-418 AND GLY-446; CHARACTERIZATION OF VARIANTS CMS20 GLY-48; GLU-65; SER-105; GLN-361 AND GLY-446;
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.