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UniProtKB/Swiss-Prot Q8NF91: Variant p.Leu4944Met

Gene: SYNE1
Variant information

Variant position:  4944
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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:  From Leucine (L) to Methionine (M) at position 4944 (L4944M, p.Leu4944Met).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
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

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

Sequence information

Variant position:  4944
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  8797
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 1 – 8797 Nesprin-1
Topological domain 1 – 8746 Cytoplasmic
Repeat 4883 – 4991 Spectrin 44
Coiled coil 314 – 8666
Alternative sequence 1 – 7843 Missing. In isoform 9.
Alternative sequence 1 – 7838 Missing. In isoform 3.
Alternative sequence 1 – 7658 Missing. In isoform 11.
Alternative sequence 1 – 5585 Missing. In isoform 8.
Alternative sequence 1 – 5476 Missing. In isoform 2.
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.

Literature citations

No reference for the current variant in UniProtKB/Swiss-Prot.

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.