Variant position: 285 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 318 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 LLTSLFLWIRTAYPRFRYDQ LMHLLWKNFLPLTLALLMWYV
Gorilla LLTSLFLWIRTAYPRFRYDQ LMHLLWKNFLPLTLALLMWYI
Chimpanzee LLTSLFLWIRTAYPRFRYDQ LMHLLWKNFLPLTLASLMWYI
Mouse LLSSTFLWIRASYPRFRYDQ LMHLLWKNFLPLTLALCMWHI
Rat LLSTTFLWIRASYPRFRYDQ LMHLLWKNFLPLTLAFCMWYI
Pig ALTITFLWIRASYPRFRYDQ LMHLLWKSFLPLTLALCMWHI
Bovine LLTMSFLWIRASYPRFRYDQ LMHLLWKNFLPLTLALCMWHV
Rabbit LLTMTFLWIRASYPRFRYDQ LMHLLWKSFLPLTLALCMWHI
Sheep LLSITFLWIRASYPRFRYDQ LMHLLWKNFLPLTLALCMWHV
Cat LLTTTFLWIRASYPRFRYDQ LMHLLWKNFLPLTLALCMWHV
Horse LLTCSFLWIRASYPRFRYDQ LMHLLWKNFLPLTLALCMWHV
Chicken LLSSSFLWIRASYPRFRYDQ LMHLLWKNFLPLTLALCLWHT
Xenopus laevis ILSMIFLWVRASYPRFRYDQ LMHLVWKNFLPITLAMTLWHI
Zebrafish MLSILFLWMRASYPRFRYDQ LMHLIWKNFLPITLVLVLWHI
Caenorhabditis elegans SL---LIFIRSSYPRYRYDL MMSLFWFKLLPISLIMLCFYA
Drosophila FISFVFIWVRGTLPRFRYDK LMYLAWKCFLSFSLNYLLFFI
Slime mold GMLCSFIWVRATLPRYRYDQ LMYLGWKSLLPFALLIYIGVI
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
1 – 318 NADH-ubiquinone oxidoreductase chain 1
Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.
Howell N.; Kubacka I.; Xu M.; McCullough D.A.;
Am. J. Hum. Genet. 48:935-942(1991)
Cited for: VARIANT LHON PRO-285; VARIANT CYS-277;
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.