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:
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 KLGGDLGTYVINKQTPNKQI WLSSPSSGPKRYDW----TGKNWVY
Mouse KLGGDLGTYVINKQTPNKQI WLSSPSSGPKRYDW----TGK
Rat KLGGDLGTYVINKQTPLLYL WFSGPCSGPKRYDW----TGK
Bovine KLGGDLGTYVINKQTPNKQI WLSSPSSGPKRYDW----TGR
Caenorhabditis elegans NVSKSVGTYVINKQSPNKQI WLSSPMSGPKRYDL---EEEG
Drosophila NLGGQHGTYVINRQTPNKQI WLSSPTSGPKRYDFVGTVAAG
Slime mold IVGNK-GTYVINKQTPNRQI WWSSPLSGPKRFDY--DSVEK
Baker's yeast EIPAF-GTYVINKQPPNKQI WLASPLSGPNRFDL----LNG
Fission yeast MLGEK-GTYVINKQPPAHQI WLSSPVSGPKHYEY--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.
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;
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.