Variant position: 182 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 210 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 GPKRYDW----TGKNWVYSHDGVS LHELLAAELTKALKT-KLDLSS
Mouse GPKRYDW----TGKNWVYSHDGVS LHELLARELTKALNT-K
Rat GPKRYDW----TGKNWVYSHDGVS LHELLARELTEALNT-K
Bovine GPKRYDW----TGRNWVYSHDGVS LHELLATELTQALKT-K
Caenorhabditis elegans GPKRYDL---EEEGKWTYAHDGEQ LDSLLNREFRKILADDR
Drosophila GPKRYDFVGTVAAGRWIYKHSGQS LHELLQQEIPGILKSQS
Slime mold GPKRFDY--DSVEKRWVDNRDGTP LRQLLNSEINTLCKY-D
Baker's yeast GPNRFDL----LNGEWVSLRNGTK LTDILTEEVEKAISKSQ
Fission yeast GPKHYEY--SLKSKTWCSTRDEGT LLGILSSEFSKWFSR-P
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
42 – 210 Frataxin intermediate form
56 – 210 Frataxin(56-210)
78 – 210 Frataxin(78-210)
81 – 210 Frataxin mature form
161 – 210 SGPKRYDWTGKNWVYSHDGVSLHELLAAELTKALKTKLDLSSLAYSGKDA -> RLTWLLWLFHP. In isoform 2.
161 – 210 SGPKRYDWTGKNWVYSHDGVSLHELLAAELTKALKTKLDLSSLAYSGKDA -> RYVVDLSVMTGLGKTGCTPTTACPSMSCWPQSSLKP. In isoform 3.
182 – 194
The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.
Forrest S.M.; Knight M.; Delatycki M.B.; Paris D.; Williamson R.; King J.; Yeung L.; Nassif N.; Nicholson G.A.;
Cited for: VARIANTS FRDA VAL-130; CYS-165 AND PHE-182;
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.