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UniProtKB/Swiss-Prot Q8TD16: Variant p.Ser107Leu

Protein bicaudal D homolog 2
Gene: BICD2
Chromosomal location: 9q22.31
Variant information

Variant position:  107
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Leucine (L) at position 107 (S107L, p.Ser107Leu).
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:  Change from small size and polar (S) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

Involvement in disease:  Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290]: An autosomal dominant form of spinal muscular atrophy characterized by early-childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. The disorder results in delayed walking, waddling gait, difficulty walking, and loss of distal reflexes. Some patients may have foot deformities or hyperlordosis, and some show mild upper motor signs, such as spasticity. Sensation, bulbar function, and cognitive function are preserved. The disorder shows very slow progression throughout life. {ECO:0000269|PubMed:23664116, ECO:0000269|PubMed:23664119, ECO:0000269|PubMed:23664120}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In SMALED2A; causes Golgi fragmentation; affects interaction with RAB6A and DNAI1 and the subcellular location of the protein.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  107
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:   TNHKKVAADGESREESLIQE  S ASKEQYYVRKVLELQTELKQ
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                         TNHKKVAADGESREESLIQESASKEQYYVRKVLELQTELKQ

Mouse                         TNHKKVAADGESREESLIQESASKEQYYVRKVLELQTELKQ

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.

TypePositionsDescription
Chain 2 – 824 Protein bicaudal D homolog 2
Region 25 – 398 Interacts with DYNLL1, DYNC1H1, DYNC1I2, DCTN1 and DCTN2
Coiled coil 20 – 269


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;

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;

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.
Neveling K.; Martinez-Carrera L.A.; Hoelker I.; Heister A.; Verrips A.; Hosseini-Barkooie S.M.; Gilissen C.; Vermeer S.; Pennings M.; Meijer R.; Te Riele M.; Frijns C.J.; Suchowersky O.; Maclaren L.; Rudnik-Schoeneborn S.; Sinke R.J.; Zerres K.; Lowry R.B.; Lemmink H.H.; Garbes L.; Veltman J.A.; Schelhaas H.J.; Scheffer H.; Wirth B.;
Am. J. Hum. Genet. 92:946-954(2013)
Cited for: VARIANTS SMALED2A LEU-107; THR-188 AND MET-703; CHARACTERIZATION OF VARIANTS SMALED2A LEU-107; THR-188 AND MET-703; VARIANT ARG-90; 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.