Variant position: 106 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 HPGSLDE--TTYERLAEETLDS LAEFFEDLADKPYTFEDYDVS
Mouse NPSSLDE--TAYERLAEETLDS LAEFFEDLADKPYTLEDYD
Rat NPSSLDE--TAYERLAEETLDA LAEFFEDLADKPYTLKDYD
Bovine DAGTLDD--TTYERLAEETLDS LAEFFEDLADKPYTFEDYD
Caenorhabditis elegans ---------NEYETAADSTLER LSDYFDQIADSFPVSEQFD
Drosophila TESTLDG--ATYERVCSDTLDA LCDYFEELTENASELQGTD
Slime mold NNTKPISDVNLFHDIVDEEFEL FVDRLEILSEA-NTCEGFE
Baker's yeast PQEVLNLPLEKYHEEADDYLDH LLDSLEELSEAHPDCIP-D
Fission yeast HNGALTD--LEYHRVADDTLDV LNDTFEDLLEEVGK-KDYD
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.
Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies.
Bartolo C.; Mendell J.R.; Prior T.W.;
Am. J. Med. Genet. 79:396-399(1998)
Cited for: VARIANT FRDA SER-106;
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