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UniProtKB/Swiss-Prot Q15813: Variant p.Ile155Asn

Tubulin-specific chaperone E
Gene: TBCE
Chromosomal location: 1q42.3
Variant information

Variant position:  155
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 Asparagine (N) at position 155 (I155N, p.Ile155Asn).
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 medium size and polar (N)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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:  Encephalopathy, progressive, with amyotrophy and optic atrophy (PEAMO) [MIM:617207]: An autosomal recessive, progressive, neurodegenerative encephalopathy with onset in infancy. Affected individuals manifest delayed psychomotor development, severe hypotonia, motor regression, spinal muscular atrophy, distal amyotrophy and weakness of all limbs, and intellectual disability of variable severity. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy. {ECO:0000269|PubMed:27666369}. 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 PEAMO; decreased function in the organization of microtubule cytoskeleton and mitotic splindle.
Any additional useful information about the variant.

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



Sequence information

Variant position:  155
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  527
The length of the canonical sequence.

Location on the sequence:   RNCAVSCAGEKGGVAEACPN  I RKVDLSKNLLSSWDEVIHIA
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                         RNCAVSCAGEKGGVAEACPNIRKVDLSKNLLSSWDEVIHIA

Mouse                         WNCAVSHAGEQGRIAEACPNIRVVNLSKNLLSTWDEVVLIA

Rat                           WKCAVSCAGERGRIAEACPNIRVVDLSKNLLSTWDEVILIA

Bovine                        RNCAVNGAGDKGEIAKACPNIRSIDLSKNLLSSWEEVIDIA

Xenopus laevis                RECAVSNAGEKGQICHSCPNIMTADLSKNLFSSWESLAHIS

Zebrafish                     RRCEVSAPGPENEIRNTTPFVQSLDLSGNLLSSWEVLAAIT

Drosophila                    DQTPVNAAGYLKELTH----LTTLNVSHTLIWNWEIVASIA

Slime mold                    SYLPISEIDESPLIYNNFKNLIELNLSNCLLNSWTQIVKLL

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 – 527 Tubulin-specific chaperone E
Repeat 154 – 175 LRR 1


Literature citations

TBCE mutations cause early-onset progressive encephalopathy with distal spinal muscular atrophy.
Sferra A.; Baillat G.; Rizza T.; Barresi S.; Flex E.; Tasca G.; D'Amico A.; Bellacchio E.; Ciolfi A.; Caputo V.; Cecchetti S.; Torella A.; Zanni G.; Diodato D.; Piermarini E.; Niceta M.; Coppola A.; Tedeschi E.; Martinelli D.; Dionisi-Vici C.; Nigro V.; Dallapiccola B.; Compagnucci C.; Tartaglia M.; Haase G.; Bertini E.;
Am. J. Hum. Genet. 99:974-983(2016)
Cited for: FUNCTION; INVOLVEMENT IN PEAMO; VARIANT PEAMO ASN-155; CHARACTERIZATION OF VARIANT PEAMO ASN-155;

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.