Sequence information
Variant position: 130 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:
FEDLADKPYTFEDYDVSFGS
G VLTVKLGGDLGTYVINKQTP
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 FEDLADKPYTFEDYDVSFGSG VLTVKLGGDLGTYVINKQTP
Mouse FEDLADKPYTLEDYDVSFGDG VLTIKLGGDLGTYVINKQTP
Rat FEDLADKPYTLKDYDVSFGDG VLTIKLGGDLGTYVINKQTP
Bovine FEDLADKPYTFEDYDVSFGSG VLTVKLGGDLGTYVINKQTP
Caenorhabditis elegans FDQIADSFPVSEQFDVSHAMG VLTVNVSKSVGTYVINKQSP
Drosophila FEELTENASELQGTDVAYSDG VLTVNLGGQHGTYVINRQTP
Slime mold LEILSEA-NTCEGFEVEGNDG VLTIIVGNK-GTYVINKQTP
Baker's yeast LEELSEAHPDCIP-DVELSHG VMTLEIPAF-GTYVINKQPP
Fission yeast FEDLLEEVGK-KDYDIQYANG VITLMLGEK-GTYVINKQPP
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
Literature citations
Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.
Bidichandani S.I.; Ashizawa T.; Patel P.I.;
Am. J. Hum. Genet. 60:1251-1256(1997)
Cited for: VARIANTS FRDA VAL-130 AND PHE-154;
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;
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
Cossee M.; Duerr A.; Schmitt M.; Dahl N.; Trouillas P.; Allinson P.; Kostrzewa M.; Nivelon-Chevallier A.; Gustavson K.-H.; Kohlschuetter A.; Mueller U.; Mandel J.-L.; Brice A.; Koenig M.; Cavalcanti F.; Tammaro A.; de Michele G.; Filla A.; Cocozza S.; Labuda M.; Montermini L.; Poirier J.; Pandolfo M.;
Ann. Neurol. 45:200-206(1999)
Cited for: VARIANTS FRDA TYR-122 AND VAL-130;
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.