Sequence information
Variant position: 72 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 174 The length of the canonical sequence.
Location on the sequence:
GLMVFLIYLGGMMVVFGYTT
A MAIEEYPEAWGSGVEVLVSV
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 GLMVFLIYLGGMMVVFGYTTA MAIEEYPEAWGSGVEVLVSV
Gorilla GLMVFLIYLGGMMVVFGYTTA MAIGEYPEAWGSGVEVLVSV
Chimpanzee GLMVFLIYLGGMMVVFGYTTA MAIEEYPEAWGSGVEVLVSV
Mouse GLMVFLIYLGGMLVVFGYTTA MATEEYPETWGSNWLILGFL
Rat GLMVFLIYLGGMLVVFGYTTA MATEEYPETWGSNWFIFSFF
Pig GLMVFLIYLGGMLVVFGYTTA MATEMYPEVWVSNKTVFGAF
Bovine GLMVFLIYLGGMMVVFGYTTA MATEQYPEIWLSNKAVLGAF
Rabbit GLMMFLIYLGGMLVVFGYTTA MATEEYPETWGSNVMILGMF
Sheep GLMVFLIYLGGMMVVFGYTTA MATEQYPEVWVSNKVVLGTF
Cat GLMVFLIYLGGMLVVFGYTTA MATEPYPEAWTSNKAVLAMF
Horse GLMVFLIYLGGMLVVFGYTTA MATEQYPEVWVSNTTVMGVF
Chicken SLALFLVYLGGMLVVFVYSVS LAADPYPEAWGD----WRVV
Xenopus laevis SIVLFLIYLGGMLVVFAYSAA -RAKPYPEAWGS----WSVV
Zebrafish SLILFLIYLGGMLVVFAYSAA LAAEPFPEAWGDRVVFWRVM
Caenorhabditis elegans SYFICLLFLSGIFVILVYFSS LSKINVVK---------SYM
Drosophila SYILFLIFLGGMLVLFIYVTS LASNEMFNLSMKLTLFSSLI
Slime mold ACIYILVNVGAIAVLFLFIVM MININIVEIQETMKKYNIYM
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
Chain
1 – 174
NADH-ubiquinone oxidoreductase chain 6
Literature citations
A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.
Jun A.S.; Brown M.D.; Wallace D.C.;
Proc. Natl. Acad. Sci. U.S.A. 91:6206-6210(1994)
Cited for: VARIANT LDYT VAL-72;
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.