Variant position: 156 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 226 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 PLIPM-LVIIETISLLIQPMA LAVRLTANITAGHLL-MHLIG--S
Gorilla PLIPM-LVIIETISLFIQPMA LAVRLTANITAGHLL-MHLI
Chimpanzee PLIPM-LVIIETISLLIQPMA LAVRLTANITAGHLL-MHLI
Mouse SLIPM-LIIIETISLFIQPMA LAVRLTANITAGHLL-MHLI
Rat SLIPM-LIIIETISLFIQPMA LAVRLTANITAGHLL-MHLI
Pig LLIPM-LVIIETISLFIQPVA LAVRLTANITAGHLL-IHLI
Bovine PLIPM-LVIIETISLFIQPMA LAVRLTANITAGHLL-IHLI
Rabbit PLIPM-LIVIETISLFIQPMA LAVRLTANITAGHLL-MHLI
Goat PLIPM-LVIIETISLFIQPMA LAVRLTANITAGHLL-IHLI
Sheep PLIPM-LVIIETISLFIQPVA LAVRLTANITAGHLL-IHLI
Cat PLIPM-LVVIETISLFIQPMA LAVRLTANITAGHLL-MHLI
Horse FLIPM-LVIIETISLFIQPVA LAVRLTANITAGHLL-MHLI
Chicken PLIPA-LIMIETTSLLIRPLA LGVRLTANLTAGHLL-IQLI
Xenopus laevis PLIPV-LIIIETISLFIRPLA LGVRLTANLTAGHLL-IQLI
Zebrafish PLIPA-LIIIETISLFIRPLA LGVRLTANLTAGHLL-IQLI
Caenorhabditis elegans YLKTLSMLLIEIVSEFSRPLA LTVRLTVNITVGHLVSMMLY
Drosophila ILMPF-MVCIETISNIIRPGT LAVRLTANMIAGHLL-LTLL
Slime mold WLLPL-LVFIEIMSYVLRPIS LAVRLFANMLAGHLL-IHII
Baker's yeast PLVPL-LVIIETLSYFARAIS LGLRLGSNILAGHLL-MVIL
Fission yeast PLIPL-LVLIEFVSYIARGLS LGIRLGANIIAGHLT-MSIL
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 – 226 ATP synthase subunit a
138 – 158 Helical
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.
Holt I.J.; Harding A.E.; Petty R.K.; Morgan-Hughes J.A.;
Am. J. Hum. Genet. 46:428-433(1990)
Cited for: VARIANT NARP ARG-156;
De novo mtDNA nt 8993 (T-G) mutation resulting in Leigh syndrome.
Takahashi S.; Makita Y.; Oki J.; Miyamoto A.; Yanagawa J.; Naito E.; Goto Y.; Okuno A.;
Am. J. Hum. Genet. 62:717-719(1998)
Cited for: VARIANT LS ARG-156;
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.