Home  |  Contact

UniProtKB/Swiss-Prot O00499: Variant p.Lys35Asn

Myc box-dependent-interacting protein 1
Gene: BIN1
Variant information

Variant position:  35
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 Lysine (K) to Asparagine (N) at position 35 (K35N, p.Lys35Asn).
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 large size and basic (K) to medium size and polar (N)
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:  Myopathy, centronuclear, 2 (CNM2) [MIM:255200]: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. {ECO:0000269|PubMed:17676042, ECO:0000269|PubMed:20142620, ECO:0000269|PubMed:24755653, ECO:0000269|PubMed:29950440}. 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 CNM2.
Any additional useful information about the variant.

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



Sequence information

Variant position:  35
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  593
The length of the canonical sequence.

Location on the sequence:   ASNVQKKLTRAQEKVLQKLG  K ADETKDEQFEQCVQNFNKQL
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                         ASNVQKKLTRAQEKVLQKLGKADETKDEQFEQCVQNFNKQL

Mouse                         ASNVQKKLTRAQEKVLQKLGKADETKDEQFEQCVQNFNKQL

Rat                           ASNVQKKLTRAQEKVLQKLGKADETKDEQFEQCVQNFNKQL

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 – 593 Myc box-dependent-interacting protein 1
Domain 29 – 276 BAR
Region 2 – 122 Interaction with BIN2
Coiled coil 15 – 42


Literature citations

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
Nicot A.-S.; Toussaint A.; Tosch V.; Kretz C.; Wallgren-Pettersson C.; Iwarsson E.; Kingston H.; Garnier J.-M.; Biancalana V.; Oldfors A.; Mandel J.-L.; Laporte J.;
Nat. Genet. 39:1134-1139(2007)
Cited for: INTERACTION WITH DNM2; INVOLVEMENT IN CNM2; VARIANTS CNM2 ASN-35; ASN-151 AND 575-LYS--PRO-593 DEL; CHARACTERIZATION OF VARIANTS CNM2 ASN-151 AND 575-LYS--PRO-593 DEL;

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.