Variant position: 277 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 TYFVTKTLLLTSLFLWIRTA YPRFRYDQLMHLLWKNFLPLT
Gorilla VCFITKTLLLTSLFLWIRTA YPRFRYDQLMHLLWKNFLPLT
Chimpanzee TYFVTKALLLTSLFLWIRTA YPRFRYDQLMHLLWKNFLPLT
Mouse TNFMMEALLLSSTFLWIRAS YPRFRYDQLMHLLWKNFLPLT
Rat TSFMTETLLLSTTFLWIRAS YPRFRYDQLMHLLWKNFLPLT
Pig INFVLKTLALTITFLWIRAS YPRFRYDQLMHLLWKSFLPLT
Bovine INFTIKSLLLTMSFLWIRAS YPRFRYDQLMHLLWKNFLPLT
Rabbit VNFATKTLLLTMTFLWIRAS YPRFRYDQLMHLLWKSFLPLT
Sheep INFTIKSLLLSITFLWIRAS YPRFRYDQLMHLLWKNFLPLT
Cat INFTVKTLLLTTTFLWIRAS YPRFRYDQLMHLLWKNFLPLT
Horse INFTIKALLLTCSFLWIRAS YPRFRYDQLMHLLWKNFLPLT
Chicken IALATKTLLLSSSFLWIRAS YPRFRYDQLMHLLWKNFLPLT
Xenopus laevis ISLMIKSSILSMIFLWVRAS YPRFRYDQLMHLVWKNFLPIT
Zebrafish ISIATKTAMLSILFLWMRAS YPRFRYDQLMHLIWKNFLPIT
Caenorhabditis elegans IFMAFSIFSL---LIFIRSS YPRYRYDLMMSLFWFKLLPIS
Drosophila LLFYMKLTFISFVFIWVRGT LPRFRYDKLMYLAWKCFLSFS
Slime mold ILGAMKGVGMLCSFIWVRAT LPRYRYDQLMYLGWKSLLPFA
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.