Variant position: 578 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 583 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 GRDKYKTLRQIRQGNTKQRI DEFEAM
Mouse GRDKYKTLRQIRQGNTKQRI DEFEAM
Pig GRDKYKTLRQIRQGNTKQRI DEFEAM
Bovine GRDKYKTLRQIRQGNTKQRI DEFEAM
Chicken GRGKYKTLRQIRQGNTKQRI DEFEAM
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 – 583 Radixin
564 – 564 Phosphothreonine; by ROCK2
583 – 583 M -> MWGPKLYALFQMRSCQSSIKQM. In isoform 2, isoform 3 and isoform 5.
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.
Khan S.Y.; Ahmed Z.M.; Shabbir M.I.; Kitajiri S.; Kalsoom S.; Tasneem S.; Shayiq S.; Ramesh A.; Srisailpathy S.; Khan S.N.; Smith R.J.H.; Riazuddin S.; Friedman T.B.; Riazuddin S.;
Hum. Mutat. 28:417-423(2007)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3 AND 5); VARIANT DFNB24 ASN-578;
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.