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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8NF91: Variant p.Gly8323Ala

Nesprin-1
Gene: SYNE1
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Variant information Variant position: help 8323
Type of variant: help LB/B
Residue change: help From Glycine (G) to Alanine (A) at position 8323 (G8323A, p.Gly8323Ala).
Physico-chemical properties: help Change from glycine (G) to small size and hydrophobic (A)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 8323
Protein sequence length: help 8797
Location on the sequence: help LPSEDEEGQDDKDFYLRGAV G LSGDHSALESQIRQLGKALD
Residue conservation: help
Human                         LPSEDEEGQDDKDFYLRGAVGLSGDHSALESQIRQLGKALD

Mouse                         LPSEDEEGEEDKEFYLRGAVGLSGDPSSLESQMRQLDKALD

Sequence annotation in neighborhood: help
TypePositionsDescription
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.