Variant position: 251 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 380 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 GLLLFLLSLMTLTLFSPDLL GDPDNYTLANPLNTPPHIKPE
Gorilla GLFLFLLTLMTLTLFSPDLL GDPDNYTLANPLSTPPHIKPE
Rhesus macaque GLVLLLFILATLTLLSPNLL NDPDNYIPADPLNTPPHIKPE
Chimpanzee GLFLFLLILMTLTLFSPGLL GDPDNYTLANPLNTPPHIKPE
Mouse GILIMFLILMTLVLFFPDML GDPDNYMPANPLNTPPHIKPE
Rat GVFMLLLFLMTLVLFFPDLL GDPDNYTPANPLNTPPHIKPE
Pig GALFMMLILLILVLFSPDLL GDPDNYTPANPLNTPPHIKPE
Bovine GALLLILALMLLVLFAPDLL GDPDNYTPANPLNTPPHIKPE
Rabbit GFLVAILLLLILVLFSPDLL GDPDNYTPANPLNTPPHIKPE
Goat GAMLLILVLMLLVLFTPDLL GDPDNYTPANPLNTPPHIKPE
Sheep GAILLILILMLLVLFTPDLL GDPDNYTPANPLNTPPHIKPE
Cat GLLVLVLTLMLLVLFSPDLL GDPDNYIPANPLNTPPHIKPE
Horse GLLLLILLLLTLVLFSPDLL GDPDNYTPANPLSTPPHIKPE
Chicken GLTLMLTPFLTLALFSPNLL GDPENFTPANPLVTPPHIKPE
Xenopus laevis GFLIMLTALTLLAMFSPNLL GDPDNFTPANPLITPPHIKPE
Zebrafish GFVIMLFSLSLLALFSPNLL GDPENFTPANPLVTPPHIKPE
Caenorhabditis elegans NIVIWLL-FIVLSLIYPFNL GDAEMFIEADPMMSPVHIVPE
Drosophila GFIVMIFILISLVLISPNLL GDPDNFIPANPLVTPAHIQPE
Slime mold SFMIFLVLFFTFVFFAPNYL GHPDNYLMADSNVTPAHIVPE
Baker's yeast TVFLFMLILALFVFYSPNTL GHPDNYIPGNPLVTPASIVPE
Fission yeast TIFIFLIGINYMAFYNPYGF MEPDCALPADPLKTPMSIVPE
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.
A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy.
Andreu A.L.; Checcarelli N.; Iwata S.; Shanske S.; DiMauro S.;
Pediatr. Res. 48:311-314(2000)
Cited for: VARIANT CMIH ASP-251;
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.