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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8TD16: Variant p.Glu774Gly

Protein bicaudal D homolog 2
Gene: BICD2
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Variant information Variant position: help 774 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Glutamate (E) to Glycine (G) at position 774 (E774G, p.Glu774Gly). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and acidic (E) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In SMALED2A; affects interaction with RAB6A and DNAI1 and the subcellular location of the protein. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 774 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 824 The length of the canonical sequence.
Location on the sequence: help CDEYITQLDEMQRQLAAAED E KKTLNSLLRMAIQQKLALTQ 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         CDEYITQLDEMQRQLAAAEDEKKTLNSLLRMAIQQKLALTQ

Mouse                         CDEYITQLDEMQRQLAAAEDEKKTLNSLLRMAIQQKLALTQ
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 2 – 824 Protein bicaudal D homolog 2
Region 590 – 824 Interaction with RANBP2
Region 666 – 814 Interacts with RAB6A
Coiled coil 666 – 808
Helix 743 – 799



Literature citations
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;
Disclaimer: 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.