Home  |  Contact

UniProtKB/Swiss-Prot Q8NF91: Variant p.Arg8095His

Nesprin-1
Gene: SYNE1
Variant information

Variant position:  8095
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 Arginine (R) to Histidine (H) at position 8095 (R8095H, p.Arg8095His).
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 (R) to medium size and polar (H)
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:  Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4) [MIM:612998]: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {ECO:0000269|PubMed:17761684}. 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 EDMD4.
Any additional useful information about the variant.

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



Sequence information

Variant position:  8095
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  8797
The length of the canonical sequence.

Location on the sequence:   ACSLKQMVHEGNQRWDNLQK  R VTSILRRLKHFIGQREEFET
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                         ACSLKQMVHEGNQRWDNLQKRVTSILRRLKHFIGQREEFET

Mouse                         ACSLRQMVHGGNQRWDDLQKRVTSILRRLKHFISQREEFET

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 1 – 8797 Nesprin-1
Topological domain 1 – 8746 Cytoplasmic
Repeat 7998 – 8106 Spectrin 70
Coiled coil 314 – 8666
Alternative sequence 1444 – 8797 Missing. In isoform 5.
Alternative sequence 1726 – 8797 Missing. In isoform 6.
Alternative sequence 3050 – 8797 Missing. In isoform 10.
Alternative sequence 3395 – 8797 Missing. In isoform GSRP-56.
Alternative sequence 5581 – 8797 Missing. In isoform 7.


Literature citations

Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.
Zhang Q.; Bethmann C.; Worth N.F.; Davies J.D.; Wasner C.; Feuer A.; Ragnauth C.D.; Yi Q.; Mellad J.A.; Warren D.T.; Wheeler M.A.; Ellis J.A.; Skepper J.N.; Vorgerd M.; Schlotter-Weigel B.; Weissberg P.L.; Roberts R.G.; Wehnert M.; Shanahan C.M.;
Hum. Mol. Genet. 16:2816-2833(2007)
Cited for: VARIANTS EDMD4 HIS-8095; LEU-8387 AND LYS-8461;

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.