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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8NF91: Variant p.Arg8095His

Nesprin-1
Gene: SYNE1
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Variant information Variant position: help 8095 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help 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: help 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: help 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
Variant description: help In EDMD4. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 8095 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 8797 The length of the canonical sequence.
Location on the sequence: help 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         ACSLKQMVHEGNQRWDNLQKRVTSILRRLKHFIGQREEFET

Mouse                         ACSLRQMVHGGNQRWDDLQKRVTSILRRLKHFISQREEFET
Sequence annotation in neighborhood: help 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.