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:
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 LPSEDEEGQDDKDFYLRGAV GLSGDHSALESQIRQLGKALD
Mouse LPSEDEEGEEDKEFYLRGAV GLSGDPSSLESQMRQLDKALD
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
1 – 8797 Nesprin-1
1 – 8746 Cytoplasmic
314 – 8666
8305 – 8305 Phosphoserine
1444 – 8797 Missing. In isoform 5.
1726 – 8797 Missing. In isoform 6.
3050 – 8797 Missing. In isoform 10.
3395 – 8797 Missing. In isoform GSRP-56.
5581 – 8797 Missing. In isoform 7.
8325 – 8325 S -> SDVMIPESPEAYVKLTENAIKNTS. In isoform 3, isoform 4 and isoform 9.
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.;
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;
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;
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