Variant position: 304 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 QLMHLLWKNFLPLTLALLMW YVSMPITISSIPPQT
Gorilla QLMHLLWKNFLPLTLALLMW YISMPTTISSIPPQT
Chimpanzee QLMHLLWKNFLPLTLASLMW YISMPTTISSIPPQT
Mouse QLMHLLWKNFLPLTLALCMW HISLPIFTAGVPPYM
Rat QLMHLLWKNFLPLTLAFCMW YISLPIFLAGIPPYT
Pig QLMHLLWKSFLPLTLALCMW HISLPIMTASIPPQS
Bovine QLMHLLWKNFLPLTLALCMW HVSLPILTSGIPPQT
Rabbit QLMHLLWKSFLPLTLALCMW HISMPIMLSSIPPQM
Sheep QLMHLLWKNFLPLTLALCMW HVSLPILLSSIPPQT
Cat QLMHLLWKNFLPLTLALCMW HVSLPIITASIPPQT
Horse QLMHLLWKNFLPLTLALCMW HVSLPIMLSSIPPQT
Chicken QLMHLLWKNFLPLTLALCLW HTSMPISYAGLPPI-
Xenopus laevis QLMHLVWKNFLPITLAMTLW HISLPISMLGLPSQT
Zebrafish QLMHLIWKNFLPITLVLVLW HIALPIALAGLPPQT
Caenorhabditis elegans LMMSLFWFKLLPISLIMLCF YAVIFYY--------
Drosophila KLMYLAWKCFLSFSLNYLLF FIGFKILLFSLL---
Slime mold QLMYLGWKSLLPFALLIYIG VISMVLIIK------
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
294 – 314 Helical
Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.
Johns D.R.; Berman J.;
Biochem. Biophys. Res. Commun. 174:1324-1330(1991)
Cited for: VARIANT LHON HIS-304;
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.