Variant position: 259 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 911 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 KMLDAEDIVNTARPDEKAIM TYVSSFYHAFSGAQKAETAAN
Mouse KMLDAEDIVNTARPDEKAIM TYVSSFYHAFSGAQKAETAAN
Rat KMLDAEDIVNTARPDEKAIM TYVSSFYHAFSGAQKAETAAN
Bovine KMLDAEDIVNTARPDEKAIM TYVSSFYHAFSGAQKAETAAN
Chicken KMLDAEDIVNTARPDEKAIM TYVSSFYHAFSGAQKAETAAN
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 – 911 Alpha-actinin-4
163 – 269 Calponin-homology (CH) 2
1 – 269 Actin-binding
249 – 249 Phosphothreonine
54 – 272 Missing. In isoform ACTN4ISO.
89 – 478 Missing. In isoform 3.
254 – 268
Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis.
Lee S.H.; Weins A.; Hayes D.B.; Pollak M.R.; Dominguez R.;
J. Mol. Biol. 376:317-324(2008)
Cited for: X-RAY CRYSTALLOGRAPHY (2.20 ANGSTROMS) OF 47-271; CHARACTERIZATION OF VARIANTS FSGS1 GLU-255; ILE-259 AND PRO-262;
Familial focal segmental glomerulosclerosis (FSGS)-linked alpha-actinin 4 (ACTN4) protein mutants lose ability to activate transcription by nuclear hormone receptors.
Khurana S.; Chakraborty S.; Lam M.; Liu Y.; Su Y.T.; Zhao X.; Saleem M.A.; Mathieson P.W.; Bruggeman L.A.; Kao H.Y.;
J. Biol. Chem. 287:12027-12035(2012)
Cited for: CHARACTERIZATION OF VARIANTS FSGS1 GLU-255; ILE-259 AND PRO-262; FUNCTION; INTERACTION WITH PPARG AND RARA; MUTAGENESIS OF 87-LEU-LEU-88; DOMAIN; SUBCELLULAR LOCATION;
Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.
Kaplan J.M.; Kim S.H.; North K.N.; Rennke H.; Correia L.A.; Tong H.-Q.; Mathis B.J.; Rodriguez-Perez J.-C.; Allen P.G.; Beggs A.H.; Pollak M.R.;
Nat. Genet. 24:251-256(2000)
Cited for: VARIANTS FSGS1 GLU-255; ILE-259 AND PRO-262;
Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.
Barua M.; Brown E.J.; Charoonratana V.T.; Genovese G.; Sun H.; Pollak M.R.;
Kidney Int. 83:316-322(2013)
Cited for: VARIANTS FSGS1 ARG-59; GLN-72; LEU-153; GLU-255; ILE-259 AND PRO-262;
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.