Sequence information
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:
HPGSLDETTYERLAEETLDS
L AEFFEDLADKPYTFEDYDVS
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--TTYERLAEETLDSL AEFFEDLADKPYTFEDYDVS
Mouse NPSSLDE--TAYERLAEETLDSL AEFFEDLADKPYTLEDYD
Rat NPSSLDE--TAYERLAEETLDAL AEFFEDLADKPYTLKDYD
Bovine DAGTLDD--TTYERLAEETLDSL AEFFEDLADKPYTFEDYD
Caenorhabditis elegans ---------NEYETAADSTLERL SDYFDQIADSFPVSEQFD
Drosophila TESTLDG--ATYERVCSDTLDAL CDYFEELTENASELQGTD
Slime mold NNTKPISDVNLFHDIVDEEFELF VDRLEILSEA-NTCEGFE
Baker's yeast PQEVLNLPLEKYHEEADDYLDHL LDSLEELSEAHPDCIP-D
Fission yeast HNGALTD--LEYHRVADDTLDVL NDTFEDLLEEVGK-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.
Literature citations
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;
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.