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UniProtKB/Swiss-Prot Q8TD16: Variant p.Ile189Phe

Protein bicaudal D homolog 2
Gene: BICD2
Variant information

Variant position:  189
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 Isoleucine (I) to Phenylalanine (F) at position 189 (I189F, p.Ile189Phe).
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 medium size and hydrophobic (I) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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 2A, childhood onset, autosomal dominant (SMALED2A) [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, ECO:0000269|PubMed:28635954}. 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.
Any additional useful information about the variant.

Sequence information

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.

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.



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.

Chain 2 – 824 Protein bicaudal D homolog 2
Region 25 – 398 Interacts with DYNLL1, DYNC1H1, DYNC1I2, DCTN1 and DCTN2
Coiled coil 20 – 269
Modified residue 190 – 190 Phosphoserine

Literature citations

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)

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.