UniProtKB/Swiss-Prot Q8NF91: Variant p.Gly8323Ala

Nesprin-1
Gene: SYNE1
Feedback?

Variant information Variant position:

8323 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 Glycine (G) to Alanine (A) at position 8323 (G8323A, p.Gly8323Ala). 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 glycine (G) to small size and hydrophobic (A) 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
Other resources:

Links to websites of interest for the variant.

Variant rs2252755 [ dbSNP | Ensembl ]

Sequence information Variant position:

8323 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:

LPSEDEEGQDDKDFYLRGAV G LSGDHSALESQIRQLGKALD 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                         LPSEDEEGQDDKDFYLRGAVGLSGDHSALESQIRQLGKALD

Mouse                         LPSEDEEGEEDKEFYLRGAVGLSGDPSSLESQMRQLDKALD

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.

Type	Positions	Description
Chain	1 – 8797	Nesprin-1
Topological domain	1 – 8746	Cytoplasmic
Coiled coil	314 – 8666
Modified residue	8305 – 8305	Phosphoserine
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.
Alternative sequence	8325 – 8325	S -> SDVMIPESPEAYVKLTENAIKNTS. In isoform 3, isoform 4 and isoform 9.

Literature citations
Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues.
Zhang Q.; Skepper J.N.; Yang F.; Davies J.D.; Hegyi L.; Roberts R.G.; Weissberg P.L.; Ellis J.A.; Shanahan C.M.;
J. Cell Sci. 114:4485-4498(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3); FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; MUTAGENESIS OF 8758-LEU--CYS-8763; VARIANTS VAL-7302 AND ALA-8323; The nesprins are giant actin-binding proteins, orthologous to Drosophila melanogaster muscle protein MSP-300.
Zhang Q.; Ragnauth C.; Greener M.J.; Shanahan C.M.; Roberts R.G.;
Genomics 80:473-481(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); SUBCELLULAR LOCATION; VARIANTS THR-4596; MET-5015; VAL-7302 AND ALA-8323; Myne-1, a spectrin repeat transmembrane protein of the myocyte inner nuclear membrane, interacts with lamin A/C.
Mislow J.M.K.; Kim M.S.; Davis D.B.; McNally E.M.;
J. Cell Sci. 115:61-70(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 11); SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANT ALA-8323; Submission
Zhang Q.; Shanahan C.M.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 8 AND 9); VARIANTS VAL-7302 AND ALA-8323; Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T.; Ishikawa K.; Suyama M.; Kikuno R.; Miyajima N.; Tanaka A.; Kotani H.; Nomura N.; Ohara O.;
DNA Res. 5:277-286(1998)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 6922-8797 (ISOFORM 1); VARIANTS VAL-7302 AND ALA-8323;

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.