Sequence information
Variant position: 155 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:
KLGGDLGTYVINKQTPNKQI
W LSSPSSGPKRYDWTGKNWVY
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 KLGGDLGTYVINKQTPNKQIW LSSPSSGPKRYDW----TGKNWVY
Mouse KLGGDLGTYVINKQTPNKQIW LSSPSSGPKRYDW----TGK
Rat KLGGDLGTYVINKQTPLLYLW FSGPCSGPKRYDW----TGK
Bovine KLGGDLGTYVINKQTPNKQIW LSSPSSGPKRYDW----TGR
Caenorhabditis elegans NVSKSVGTYVINKQSPNKQIW LSSPMSGPKRYDL---EEEG
Drosophila NLGGQHGTYVINRQTPNKQIW LSSPTSGPKRYDFVGTVAAG
Slime mold IVGNK-GTYVINKQTPNRQIW WSSPLSGPKRFDY--DSVEK
Baker's yeast EIPAF-GTYVINKQPPNKQIW LASPLSGPNRFDL----LNG
Fission yeast MLGEK-GTYVINKQPPAHQIW LSSPVSGPKHYEY--SLKSK
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.
Literature citations
Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.
Shan Y.; Napoli E.; Cortopassi G.;
Hum. Mol. Genet. 16:929-941(2007)
Cited for: INTERACTION WITH LYRM4 AND HSPA9; CHARACTERIZATION OF VARIANTS PHE-154 AND ARG-155;
A missense mutation (W155R) in an American patient with Friedreich's ataxia.
Labuda M.; Poirier J.; Pandolfo M.;
Cited for: VARIANT FRDA ARG-155;
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.