Variant position: 774 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 824 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 CDEYITQLDEMQRQLAAAED EKKTLNSLLRMAIQQKLALTQ
Mouse CDEYITQLDEMQRQLAAAED EKKTLNSLLRMAIQQKLALTQ
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.
Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.
Peeters K.; Litvinenko I.; Asselbergh B.; Almeida-Souza L.; Chamova T.; Geuens T.; Ydens E.; Zimon M.; Irobi J.; De Vriendt E.; De Winter V.; Ooms T.; Timmerman V.; Tournev I.; Jordanova A.;
Am. J. Hum. Genet. 92:955-964(2013)
Cited for: VARIANTS SMALED2A LEU-107 AND GLY-774; CHARACTERIZATION OF VARIANTS SMALED2A LEU-107 AND GLY-774; INTERACTION WITH DNAI1 AND RAB6A; SUBCELLULAR LOCATION;
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.