Variant position: 189 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 EYKFREARLLQDYSELEEEN ISLQKQVSVLRQNQVEFEGLK
Mouse EYKFREARLLQDYSELEEEN ISLQKQVSVLRQNQVEFEGLK
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
2 – 824 Protein bicaudal D homolog 2
25 – 398 Interacts with DYNLL1, DYNC1H1, DYNC1I2, DCTN1 and DCTN2
20 – 269
190 – 190 Phosphoserine
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.
Oates E.C.; Rossor A.M.; Hafezparast M.; Gonzalez M.; Speziani F.; Macarthur D.G.; Lek M.; Cottenie E.; Scoto M.; Foley A.R.; Hurles M.; Houlden H.; Greensmith L.; Auer-Grumbach M.; Pieber T.R.; Strom T.M.; Schule R.; Herrmann D.N.; Sowden J.E.; Acsadi G.; Menezes M.P.; Clarke N.F.; Zuechner S.; Muntoni F.; North K.N.; Reilly M.M.;
Am. J. Hum. Genet. 92:965-973(2013)
Cited for: VARIANTS SMALED2A LEU-107; PHE-189; PRO-501 AND THR-508; CHARACTERIZATION OF VARIANTS SMALED2A LEU-107 AND PRO-501; INTERACTION WITH DNAI1; 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.