Sequence information
Variant position: 165 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:
INKQTPNKQIWLSSPSSGPK
R YDWTGKNWVYSHDGVSLHEL
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 INKQTPNKQIWLSSPSSGPKR YDW----TGKNWVYSHDGVSLHEL
Mouse INKQTPNKQIWLSSPSSGPKR YDW----TGKNWVYSHDGVS
Rat INKQTPLLYLWFSGPCSGPKR YDW----TGKNWVYSHDGVS
Bovine INKQTPNKQIWLSSPSSGPKR YDW----TGRNWVYSHDGVS
Caenorhabditis elegans INKQSPNKQIWLSSPMSGPKR YDL---EEEGKWTYAHDGEQ
Drosophila INRQTPNKQIWLSSPTSGPKR YDFVGTVAAGRWIYKHSGQS
Slime mold INKQTPNRQIWWSSPLSGPKR FDY--DSVEKRWVDNRDGTP
Baker's yeast INKQPPNKQIWLASPLSGPNR FDL----LNGEWVSLRNGTK
Fission yeast INKQPPAHQIWLSSPVSGPKH YEY--SLKSKTWCSTRDEGT
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
Chain
42 – 210
Frataxin intermediate form
Chain
56 – 210
Frataxin(56-210)
Chain
78 – 210
Frataxin(78-210)
Chain
81 – 210
Frataxin mature form
Alternative sequence
161 – 210
SGPKRYDWTGKNWVYSHDGVSLHELLAAELTKALKTKLDLSSLAYSGKDA -> RLTWLLWLFHP. In isoform 2.
Alternative sequence
161 – 210
SGPKRYDWTGKNWVYSHDGVSLHELLAAELTKALKTKLDLSSLAYSGKDA -> RYVVDLSVMTGLGKTGCTPTTACPSMSCWPQSSLKP. In isoform 3.
Beta strand
164 – 168
Literature citations
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.;
Neurogenetics 1:253-257(1998)
Cited for: VARIANTS FRDA VAL-130; CYS-165 AND PHE-182;
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.